esv3821555

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:27
Validation:Not tested
Clinical Assertions: No
Region Size:218,479

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 1305 SVs from 85 studies. See in: genome view

Remapped(Score: Perfect):189,356,574-189,575,569

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3821555	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
esv3821555	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv17369903	deletion	HG00513	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,163
essv17369904	deletion	HG00566	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,182
essv17369905	deletion	HG00663	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,261
essv17369906	deletion	HG00671	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,639
essv17369907	deletion	HG00672	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,259
essv17369908	deletion	HG00689	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,593
essv17369909	deletion	HG00864	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,332
essv17369910	deletion	HG01597	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,447
essv17369911	deletion	HG01796	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,389
essv17369912	deletion	HG01808	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,403
essv17369913	deletion	HG01811	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,633
essv17369914	deletion	HG02113	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,108
essv17369915	deletion	HG02134	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,620
essv17369916	deletion	HG02139	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,185
essv17369917	deletion	HG02140	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,299
essv17369918	deletion	HG02367	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,628
essv17369919	deletion	HG02373	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,694
essv17369920	deletion	HG02397	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,636
essv17369921	deletion	HG02407	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,722
essv17369922	deletion	NA18542	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,413
essv17369923	deletion	NA18552	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,215
essv17369924	deletion	NA18562	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,633
essv17369925	deletion	NA18954	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,085
essv17369926	deletion	NA18967	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,106
essv17369927	deletion	NA18975	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,236
essv17369928	deletion	NA18981	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,135
essv17369929	deletion	NA19002	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,182

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv17369903	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369904	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369905	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369906	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369907	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369908	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369909	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369910	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369911	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369912	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369913	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369914	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369915	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369916	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369917	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369918	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369919	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369920	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369921	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369922	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369923	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369924	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369925	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369926	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369927	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369928	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369929	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv17369903	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369904	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369905	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369906	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369907	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369908	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369909	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369910	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369911	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369912	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369913	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369914	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369915	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369916	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369917	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369918	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369919	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369920	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369921	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369922	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369923	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369924	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369925	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369926	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369927	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369928	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv17369929	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)

dbVar

Database of genomic structural variation

esv3821555

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.