esv3829089

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:50,815

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: 876 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):4,195,236-4,246,136

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3829089	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	4,195,279 (-43, +43)	4,246,093 (-43, +43)
esv3829089	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	4,236,963 (-43, +43)	4,287,777 (-43, +43)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv18174242	deletion	HG02221	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,528
essv18174243	deletion	HG03193	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,183
essv18174244	deletion	HG03313	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,432
essv18174245	deletion	NA11892	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,484
essv18174246	deletion	NA18533	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,202
essv18174247	deletion	NA18548	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,537
essv18174248	deletion	NA18557	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,575
essv18174249	deletion	NA18635	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,651
essv18174250	deletion	NA18745	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,442
essv18174251	deletion	NA18988	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,938
essv18174252	deletion	NA19779	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,175

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv18174242	Remapped	Perfect	NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,195,279 (-43, +43)	4,246,093 (-43, +43)
essv18174243	Remapped	Perfect	NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,195,279 (-43, +43)	4,246,093 (-43, +43)
essv18174244	Remapped	Perfect	NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,195,279 (-43, +43)	4,246,093 (-43, +43)
essv18174245	Remapped	Perfect	NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,195,279 (-43, +43)	4,246,093 (-43, +43)
essv18174246	Remapped	Perfect	NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,195,279 (-43, +43)	4,246,093 (-43, +43)
essv18174247	Remapped	Perfect	NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,195,279 (-43, +43)	4,246,093 (-43, +43)
essv18174248	Remapped	Perfect	NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,195,279 (-43, +43)	4,246,093 (-43, +43)
essv18174249	Remapped	Perfect	NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,195,279 (-43, +43)	4,246,093 (-43, +43)
essv18174250	Remapped	Perfect	NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,195,279 (-43, +43)	4,246,093 (-43, +43)
essv18174251	Remapped	Perfect	NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,195,279 (-43, +43)	4,246,093 (-43, +43)
essv18174252	Remapped	Perfect	NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,195,279 (-43, +43)	4,246,093 (-43, +43)
essv18174242	Submitted genomic		NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,236,963 (-43, +43)	4,287,777 (-43, +43)
essv18174243	Submitted genomic		NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,236,963 (-43, +43)	4,287,777 (-43, +43)
essv18174244	Submitted genomic		NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,236,963 (-43, +43)	4,287,777 (-43, +43)
essv18174245	Submitted genomic		NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,236,963 (-43, +43)	4,287,777 (-43, +43)
essv18174246	Submitted genomic		NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,236,963 (-43, +43)	4,287,777 (-43, +43)
essv18174247	Submitted genomic		NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,236,963 (-43, +43)	4,287,777 (-43, +43)
essv18174248	Submitted genomic		NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,236,963 (-43, +43)	4,287,777 (-43, +43)
essv18174249	Submitted genomic		NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,236,963 (-43, +43)	4,287,777 (-43, +43)
essv18174250	Submitted genomic		NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,236,963 (-43, +43)	4,287,777 (-43, +43)
essv18174251	Submitted genomic		NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,236,963 (-43, +43)	4,287,777 (-43, +43)
essv18174252	Submitted genomic		NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,236,963 (-43, +43)	4,287,777 (-43, +43)

dbVar

Database of genomic structural variation

esv3829089

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.