esv3852097

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:10,383

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: 295 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):156,840,327-156,850,721

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3852097	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	156,840,333 (-6, +6)	156,850,715 (-6, +6)
esv3852097	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	156,633,027 (-6, +6)	156,643,409 (-6, +6)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20961195	deletion	HG02624	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,877
essv20961196	deletion	HG02820	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,622
essv20961197	deletion	HG02881	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,261
essv20961198	deletion	HG03064	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,978
essv20961199	deletion	HG03066	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,908
essv20961200	deletion	HG03072	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,943
essv20961201	deletion	HG03267	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,658
essv20961202	deletion	HG03437	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,717
essv20961203	deletion	HG03470	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,775
essv20961204	deletion	NA19096	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,873
essv20961205	deletion	NA19711	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,886

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20961195	Remapped	Perfect	NC_000007.14:g.(15 6840327_156840339) _(156850709_156850 721)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	156,840,333 (-6, +6)	156,850,715 (-6, +6)
essv20961196	Remapped	Perfect	NC_000007.14:g.(15 6840327_156840339) _(156850709_156850 721)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	156,840,333 (-6, +6)	156,850,715 (-6, +6)
essv20961197	Remapped	Perfect	NC_000007.14:g.(15 6840327_156840339) _(156850709_156850 721)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	156,840,333 (-6, +6)	156,850,715 (-6, +6)
essv20961198	Remapped	Perfect	NC_000007.14:g.(15 6840327_156840339) _(156850709_156850 721)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	156,840,333 (-6, +6)	156,850,715 (-6, +6)
essv20961199	Remapped	Perfect	NC_000007.14:g.(15 6840327_156840339) _(156850709_156850 721)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	156,840,333 (-6, +6)	156,850,715 (-6, +6)
essv20961200	Remapped	Perfect	NC_000007.14:g.(15 6840327_156840339) _(156850709_156850 721)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	156,840,333 (-6, +6)	156,850,715 (-6, +6)
essv20961201	Remapped	Perfect	NC_000007.14:g.(15 6840327_156840339) _(156850709_156850 721)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	156,840,333 (-6, +6)	156,850,715 (-6, +6)
essv20961202	Remapped	Perfect	NC_000007.14:g.(15 6840327_156840339) _(156850709_156850 721)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	156,840,333 (-6, +6)	156,850,715 (-6, +6)
essv20961203	Remapped	Perfect	NC_000007.14:g.(15 6840327_156840339) _(156850709_156850 721)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	156,840,333 (-6, +6)	156,850,715 (-6, +6)
essv20961204	Remapped	Perfect	NC_000007.14:g.(15 6840327_156840339) _(156850709_156850 721)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	156,840,333 (-6, +6)	156,850,715 (-6, +6)
essv20961205	Remapped	Perfect	NC_000007.14:g.(15 6840327_156840339) _(156850709_156850 721)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	156,840,333 (-6, +6)	156,850,715 (-6, +6)
essv20961195	Submitted genomic		NC_000007.13:g.(15 6633021_156633033) _(156643403_156643 415)del	GRCh37 (hg19)		NC_000007.13	Chr7	156,633,027 (-6, +6)	156,643,409 (-6, +6)
essv20961196	Submitted genomic		NC_000007.13:g.(15 6633021_156633033) _(156643403_156643 415)del	GRCh37 (hg19)		NC_000007.13	Chr7	156,633,027 (-6, +6)	156,643,409 (-6, +6)
essv20961197	Submitted genomic		NC_000007.13:g.(15 6633021_156633033) _(156643403_156643 415)del	GRCh37 (hg19)		NC_000007.13	Chr7	156,633,027 (-6, +6)	156,643,409 (-6, +6)
essv20961198	Submitted genomic		NC_000007.13:g.(15 6633021_156633033) _(156643403_156643 415)del	GRCh37 (hg19)		NC_000007.13	Chr7	156,633,027 (-6, +6)	156,643,409 (-6, +6)
essv20961199	Submitted genomic		NC_000007.13:g.(15 6633021_156633033) _(156643403_156643 415)del	GRCh37 (hg19)		NC_000007.13	Chr7	156,633,027 (-6, +6)	156,643,409 (-6, +6)
essv20961200	Submitted genomic		NC_000007.13:g.(15 6633021_156633033) _(156643403_156643 415)del	GRCh37 (hg19)		NC_000007.13	Chr7	156,633,027 (-6, +6)	156,643,409 (-6, +6)
essv20961201	Submitted genomic		NC_000007.13:g.(15 6633021_156633033) _(156643403_156643 415)del	GRCh37 (hg19)		NC_000007.13	Chr7	156,633,027 (-6, +6)	156,643,409 (-6, +6)
essv20961202	Submitted genomic		NC_000007.13:g.(15 6633021_156633033) _(156643403_156643 415)del	GRCh37 (hg19)		NC_000007.13	Chr7	156,633,027 (-6, +6)	156,643,409 (-6, +6)
essv20961203	Submitted genomic		NC_000007.13:g.(15 6633021_156633033) _(156643403_156643 415)del	GRCh37 (hg19)		NC_000007.13	Chr7	156,633,027 (-6, +6)	156,643,409 (-6, +6)
essv20961204	Submitted genomic		NC_000007.13:g.(15 6633021_156633033) _(156643403_156643 415)del	GRCh37 (hg19)		NC_000007.13	Chr7	156,633,027 (-6, +6)	156,643,409 (-6, +6)
essv20961205	Submitted genomic		NC_000007.13:g.(15 6633021_156633033) _(156643403_156643 415)del	GRCh37 (hg19)		NC_000007.13	Chr7	156,633,027 (-6, +6)	156,643,409 (-6, +6)

dbVar

Database of genomic structural variation

esv3852097

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.