esv3840050

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:21
Validation:Not tested
Clinical Assertions: No
Region Size:36,168

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: 256 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):41,564,052-41,600,219

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3840050	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
esv3840050	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	41,564,154	41,600,321

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv19471801	copy number loss	HG00675	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,396
essv19471802	copy number loss	HG01808	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,403
essv19471803	copy number loss	HG01858	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,322
essv19471804	copy number loss	HG01871	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,252
essv19471805	copy number loss	NA18942	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,414
essv19471806	copy number loss	NA18947	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,439
essv19471807	copy number loss	NA18951	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,427
essv19471808	copy number loss	NA18959	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,528
essv19471809	copy number loss	NA18971	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,228
essv19471810	copy number loss	NA18972	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,738
essv19471811	copy number loss	NA18975	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,236
essv19471812	copy number loss	NA19000	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,601
essv19471813	copy number loss	NA19005	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,923
essv19471814	copy number loss	NA19007	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv19471815	copy number loss	NA19009	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,641
essv19471816	copy number loss	NA19055	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,525
essv19471817	copy number loss	NA19062	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,684
essv19471818	copy number loss	NA19063	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,503
essv19471819	copy number loss	NA19067	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,784
essv19471820	copy number loss	NA19074	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,168
essv19471821	copy number loss	NA20332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,116

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv19471801	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471802	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471803	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471804	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471805	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471806	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471807	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471808	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471809	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471810	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471811	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471812	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471813	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471814	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471815	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471816	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471817	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471818	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471819	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471820	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471821	Remapped	Perfect	NC_000005.10:g.415 64052_41600219del	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,564,052	41,600,219
essv19471801	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471802	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471803	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471804	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471805	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471806	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471807	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471808	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471809	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471810	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471811	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471812	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471813	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471814	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471815	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471816	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471817	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471818	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471819	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471820	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321
essv19471821	Submitted genomic		NC_000005.9:g.4156 4154_41600321del	GRCh37 (hg19)		NC_000005.9	Chr5	41,564,154	41,600,321

dbVar

Database of genomic structural variation

esv3840050

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.