esv3850925

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:14
Validation:Not tested
Clinical Assertions: No
Region Size:169,467

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: 1663 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):111,465,457-111,634,923

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3850925	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	111,465,457	111,634,923
esv3850925	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	111,105,513	111,274,979

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20838868	deletion	HG00186	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,391
essv20838869	deletion	HG02050	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,678
essv20838870	deletion	HG02407	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,722
essv20838871	deletion	HG02922	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,081
essv20838872	deletion	HG03629	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,771
essv20838873	deletion	HG03736	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,302
essv20838874	deletion	HG03886	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,408
essv20838875	deletion	HG04056	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,093
essv20838876	deletion	HG04227	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,518
essv20838877	deletion	NA18629	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,095
essv20838878	deletion	NA19067	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,784
essv20838879	deletion	NA20762	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,605
essv20838880	deletion	NA20849	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,504
essv20838881	deletion	NA20854	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,362

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20838868	Remapped	Perfect	NC_000007.14:g.111 465457_111634923de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,465,457	111,634,923
essv20838869	Remapped	Perfect	NC_000007.14:g.111 465457_111634923de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,465,457	111,634,923
essv20838870	Remapped	Perfect	NC_000007.14:g.111 465457_111634923de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,465,457	111,634,923
essv20838871	Remapped	Perfect	NC_000007.14:g.111 465457_111634923de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,465,457	111,634,923
essv20838872	Remapped	Perfect	NC_000007.14:g.111 465457_111634923de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,465,457	111,634,923
essv20838873	Remapped	Perfect	NC_000007.14:g.111 465457_111634923de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,465,457	111,634,923
essv20838874	Remapped	Perfect	NC_000007.14:g.111 465457_111634923de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,465,457	111,634,923
essv20838875	Remapped	Perfect	NC_000007.14:g.111 465457_111634923de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,465,457	111,634,923
essv20838876	Remapped	Perfect	NC_000007.14:g.111 465457_111634923de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,465,457	111,634,923
essv20838877	Remapped	Perfect	NC_000007.14:g.111 465457_111634923de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,465,457	111,634,923
essv20838878	Remapped	Perfect	NC_000007.14:g.111 465457_111634923de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,465,457	111,634,923
essv20838879	Remapped	Perfect	NC_000007.14:g.111 465457_111634923de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,465,457	111,634,923
essv20838880	Remapped	Perfect	NC_000007.14:g.111 465457_111634923de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,465,457	111,634,923
essv20838881	Remapped	Perfect	NC_000007.14:g.111 465457_111634923de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,465,457	111,634,923
essv20838868	Submitted genomic		NC_000007.13:g.111 105513_111274979de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,105,513	111,274,979
essv20838869	Submitted genomic		NC_000007.13:g.111 105513_111274979de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,105,513	111,274,979
essv20838870	Submitted genomic		NC_000007.13:g.111 105513_111274979de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,105,513	111,274,979
essv20838871	Submitted genomic		NC_000007.13:g.111 105513_111274979de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,105,513	111,274,979
essv20838872	Submitted genomic		NC_000007.13:g.111 105513_111274979de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,105,513	111,274,979
essv20838873	Submitted genomic		NC_000007.13:g.111 105513_111274979de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,105,513	111,274,979
essv20838874	Submitted genomic		NC_000007.13:g.111 105513_111274979de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,105,513	111,274,979
essv20838875	Submitted genomic		NC_000007.13:g.111 105513_111274979de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,105,513	111,274,979
essv20838876	Submitted genomic		NC_000007.13:g.111 105513_111274979de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,105,513	111,274,979
essv20838877	Submitted genomic		NC_000007.13:g.111 105513_111274979de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,105,513	111,274,979
essv20838878	Submitted genomic		NC_000007.13:g.111 105513_111274979de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,105,513	111,274,979
essv20838879	Submitted genomic		NC_000007.13:g.111 105513_111274979de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,105,513	111,274,979
essv20838880	Submitted genomic		NC_000007.13:g.111 105513_111274979de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,105,513	111,274,979
essv20838881	Submitted genomic		NC_000007.13:g.111 105513_111274979de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,105,513	111,274,979

dbVar

Database of genomic structural variation

esv3850925

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.