esv3860983

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:11,231

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: 680 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):66,535,870-66,547,100

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3860983	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	66,535,870	66,547,100
esv3860983	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	68,295,628	68,306,858

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv22026677	copy number loss	HG00281	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,258
essv22026678	copy number loss	HG01325	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,518
essv22026679	copy number loss	HG01865	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,541
essv22026680	copy number loss	HG02304	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,688
essv22026681	copy number loss	HG03169	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,796
essv22026682	copy number loss	NA18616	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,280
essv22026683	copy number loss	NA18625	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,462
essv22026684	copy number loss	NA19083	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,398
essv22026685	copy number gain	HG01058	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,958
essv22026686	copy number gain	HG03660	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,743
essv22026687	copy number gain	NA18740	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,501

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv22026677	Remapped	Perfect	NC_000010.11:g.665 35870_66547100del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,535,870	66,547,100
essv22026678	Remapped	Perfect	NC_000010.11:g.665 35870_66547100del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,535,870	66,547,100
essv22026679	Remapped	Perfect	NC_000010.11:g.665 35870_66547100del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,535,870	66,547,100
essv22026680	Remapped	Perfect	NC_000010.11:g.665 35870_66547100del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,535,870	66,547,100
essv22026681	Remapped	Perfect	NC_000010.11:g.665 35870_66547100del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,535,870	66,547,100
essv22026682	Remapped	Perfect	NC_000010.11:g.665 35870_66547100del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,535,870	66,547,100
essv22026683	Remapped	Perfect	NC_000010.11:g.665 35870_66547100del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,535,870	66,547,100
essv22026684	Remapped	Perfect	NC_000010.11:g.665 35870_66547100del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,535,870	66,547,100
essv22026685	Remapped	Perfect	NC_000010.11:g.665 35870_66547100dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,535,870	66,547,100
essv22026686	Remapped	Perfect	NC_000010.11:g.665 35870_66547100dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,535,870	66,547,100
essv22026687	Remapped	Perfect	NC_000010.11:g.665 35870_66547100dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,535,870	66,547,100
essv22026677	Submitted genomic		NC_000010.10:g.682 95628_68306858del	GRCh37 (hg19)		NC_000010.10	Chr10	68,295,628	68,306,858
essv22026678	Submitted genomic		NC_000010.10:g.682 95628_68306858del	GRCh37 (hg19)		NC_000010.10	Chr10	68,295,628	68,306,858
essv22026679	Submitted genomic		NC_000010.10:g.682 95628_68306858del	GRCh37 (hg19)		NC_000010.10	Chr10	68,295,628	68,306,858
essv22026680	Submitted genomic		NC_000010.10:g.682 95628_68306858del	GRCh37 (hg19)		NC_000010.10	Chr10	68,295,628	68,306,858
essv22026681	Submitted genomic		NC_000010.10:g.682 95628_68306858del	GRCh37 (hg19)		NC_000010.10	Chr10	68,295,628	68,306,858
essv22026682	Submitted genomic		NC_000010.10:g.682 95628_68306858del	GRCh37 (hg19)		NC_000010.10	Chr10	68,295,628	68,306,858
essv22026683	Submitted genomic		NC_000010.10:g.682 95628_68306858del	GRCh37 (hg19)		NC_000010.10	Chr10	68,295,628	68,306,858
essv22026684	Submitted genomic		NC_000010.10:g.682 95628_68306858del	GRCh37 (hg19)		NC_000010.10	Chr10	68,295,628	68,306,858
essv22026685	Submitted genomic		NC_000010.10:g.682 95628_68306858dup	GRCh37 (hg19)		NC_000010.10	Chr10	68,295,628	68,306,858
essv22026686	Submitted genomic		NC_000010.10:g.682 95628_68306858dup	GRCh37 (hg19)		NC_000010.10	Chr10	68,295,628	68,306,858
essv22026687	Submitted genomic		NC_000010.10:g.682 95628_68306858dup	GRCh37 (hg19)		NC_000010.10	Chr10	68,295,628	68,306,858

dbVar

Database of genomic structural variation

esv3860983

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.