esv3873808

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:11
Validation:Not tested
Clinical Assertions: No
Region Size:38,601

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: 224 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):86,074,037-86,112,637

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3873808	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	86,074,037	86,112,637
esv3873808	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	86,540,381	86,578,981

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv23590391	deletion	HG00437	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,574
essv23590392	deletion	HG00663	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,261
essv23590393	deletion	HG01798	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,342
essv23590394	deletion	HG02069	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,159
essv23590395	deletion	NA18533	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,202
essv23590396	deletion	NA18539	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,199
essv23590397	deletion	NA18543	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,700
essv23590398	deletion	NA18565	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,272
essv23590399	deletion	NA18635	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,651
essv23590400	deletion	NA18638	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,671
essv23590401	deletion	NA18644	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,754

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv23590391	Remapped	Perfect	NC_000014.9:g.8607 4037_86112637del	GRCh38.p12	First Pass	NC_000014.9	Chr14	86,074,037	86,112,637
essv23590392	Remapped	Perfect	NC_000014.9:g.8607 4037_86112637del	GRCh38.p12	First Pass	NC_000014.9	Chr14	86,074,037	86,112,637
essv23590393	Remapped	Perfect	NC_000014.9:g.8607 4037_86112637del	GRCh38.p12	First Pass	NC_000014.9	Chr14	86,074,037	86,112,637
essv23590394	Remapped	Perfect	NC_000014.9:g.8607 4037_86112637del	GRCh38.p12	First Pass	NC_000014.9	Chr14	86,074,037	86,112,637
essv23590395	Remapped	Perfect	NC_000014.9:g.8607 4037_86112637del	GRCh38.p12	First Pass	NC_000014.9	Chr14	86,074,037	86,112,637
essv23590396	Remapped	Perfect	NC_000014.9:g.8607 4037_86112637del	GRCh38.p12	First Pass	NC_000014.9	Chr14	86,074,037	86,112,637
essv23590397	Remapped	Perfect	NC_000014.9:g.8607 4037_86112637del	GRCh38.p12	First Pass	NC_000014.9	Chr14	86,074,037	86,112,637
essv23590398	Remapped	Perfect	NC_000014.9:g.8607 4037_86112637del	GRCh38.p12	First Pass	NC_000014.9	Chr14	86,074,037	86,112,637
essv23590399	Remapped	Perfect	NC_000014.9:g.8607 4037_86112637del	GRCh38.p12	First Pass	NC_000014.9	Chr14	86,074,037	86,112,637
essv23590400	Remapped	Perfect	NC_000014.9:g.8607 4037_86112637del	GRCh38.p12	First Pass	NC_000014.9	Chr14	86,074,037	86,112,637
essv23590401	Remapped	Perfect	NC_000014.9:g.8607 4037_86112637del	GRCh38.p12	First Pass	NC_000014.9	Chr14	86,074,037	86,112,637
essv23590391	Submitted genomic		NC_000014.8:g.8654 0381_86578981del	GRCh37 (hg19)		NC_000014.8	Chr14	86,540,381	86,578,981
essv23590392	Submitted genomic		NC_000014.8:g.8654 0381_86578981del	GRCh37 (hg19)		NC_000014.8	Chr14	86,540,381	86,578,981
essv23590393	Submitted genomic		NC_000014.8:g.8654 0381_86578981del	GRCh37 (hg19)		NC_000014.8	Chr14	86,540,381	86,578,981
essv23590394	Submitted genomic		NC_000014.8:g.8654 0381_86578981del	GRCh37 (hg19)		NC_000014.8	Chr14	86,540,381	86,578,981
essv23590395	Submitted genomic		NC_000014.8:g.8654 0381_86578981del	GRCh37 (hg19)		NC_000014.8	Chr14	86,540,381	86,578,981
essv23590396	Submitted genomic		NC_000014.8:g.8654 0381_86578981del	GRCh37 (hg19)		NC_000014.8	Chr14	86,540,381	86,578,981
essv23590397	Submitted genomic		NC_000014.8:g.8654 0381_86578981del	GRCh37 (hg19)		NC_000014.8	Chr14	86,540,381	86,578,981
essv23590398	Submitted genomic		NC_000014.8:g.8654 0381_86578981del	GRCh37 (hg19)		NC_000014.8	Chr14	86,540,381	86,578,981
essv23590399	Submitted genomic		NC_000014.8:g.8654 0381_86578981del	GRCh37 (hg19)		NC_000014.8	Chr14	86,540,381	86,578,981
essv23590400	Submitted genomic		NC_000014.8:g.8654 0381_86578981del	GRCh37 (hg19)		NC_000014.8	Chr14	86,540,381	86,578,981
essv23590401	Submitted genomic		NC_000014.8:g.8654 0381_86578981del	GRCh37 (hg19)		NC_000014.8	Chr14	86,540,381	86,578,981

dbVar

Database of genomic structural variation

esv3873808

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.