esv3889081

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:15
Validation:Not tested
Clinical Assertions: No
Region Size:57,274

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

Remapped(Score: Perfect):64,785,080-64,842,357

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3889081	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	64,785,082 (-2, +2)	64,842,355 (-2, +2)
esv3889081	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	64,004,962 (-2, +2)	64,062,235 (-2, +2)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25364286	deletion	HG00361	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv25364287	deletion	HG01861	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,564
essv25364288	deletion	HG01870	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,133
essv25364289	deletion	HG03511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv25364290	deletion	HG03937	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,227
essv25364291	deletion	NA18526	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,363
essv25364292	deletion	NA18544	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,559
essv25364293	deletion	NA18566	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,350
essv25364294	deletion	NA18995	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,441
essv25364295	deletion	NA19001	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,369
essv25364296	deletion	NA19059	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,396
essv25364297	deletion	NA19332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,777
essv25364298	deletion	NA20506	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,161
essv25364299	deletion	NA20530	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,153
essv25364300	deletion	NA20533	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,922

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25364286	Remapped	Perfect	NC_000023.11:g.(64 785080_64785084)_( 64842353_64842357) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	64,785,082 (-2, +2)	64,842,355 (-2, +2)
essv25364287	Remapped	Perfect	NC_000023.11:g.(64 785080_64785084)_( 64842353_64842357) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	64,785,082 (-2, +2)	64,842,355 (-2, +2)
essv25364288	Remapped	Perfect	NC_000023.11:g.(64 785080_64785084)_( 64842353_64842357) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	64,785,082 (-2, +2)	64,842,355 (-2, +2)
essv25364289	Remapped	Perfect	NC_000023.11:g.(64 785080_64785084)_( 64842353_64842357) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	64,785,082 (-2, +2)	64,842,355 (-2, +2)
essv25364290	Remapped	Perfect	NC_000023.11:g.(64 785080_64785084)_( 64842353_64842357) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	64,785,082 (-2, +2)	64,842,355 (-2, +2)
essv25364291	Remapped	Perfect	NC_000023.11:g.(64 785080_64785084)_( 64842353_64842357) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	64,785,082 (-2, +2)	64,842,355 (-2, +2)
essv25364292	Remapped	Perfect	NC_000023.11:g.(64 785080_64785084)_( 64842353_64842357) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	64,785,082 (-2, +2)	64,842,355 (-2, +2)
essv25364293	Remapped	Perfect	NC_000023.11:g.(64 785080_64785084)_( 64842353_64842357) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	64,785,082 (-2, +2)	64,842,355 (-2, +2)
essv25364294	Remapped	Perfect	NC_000023.11:g.(64 785080_64785084)_( 64842353_64842357) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	64,785,082 (-2, +2)	64,842,355 (-2, +2)
essv25364295	Remapped	Perfect	NC_000023.11:g.(64 785080_64785084)_( 64842353_64842357) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	64,785,082 (-2, +2)	64,842,355 (-2, +2)
essv25364296	Remapped	Perfect	NC_000023.11:g.(64 785080_64785084)_( 64842353_64842357) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	64,785,082 (-2, +2)	64,842,355 (-2, +2)
essv25364297	Remapped	Perfect	NC_000023.11:g.(64 785080_64785084)_( 64842353_64842357) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	64,785,082 (-2, +2)	64,842,355 (-2, +2)
essv25364298	Remapped	Perfect	NC_000023.11:g.(64 785080_64785084)_( 64842353_64842357) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	64,785,082 (-2, +2)	64,842,355 (-2, +2)
essv25364299	Remapped	Perfect	NC_000023.11:g.(64 785080_64785084)_( 64842353_64842357) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	64,785,082 (-2, +2)	64,842,355 (-2, +2)
essv25364300	Remapped	Perfect	NC_000023.11:g.(64 785080_64785084)_( 64842353_64842357) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	64,785,082 (-2, +2)	64,842,355 (-2, +2)
essv25364286	Submitted genomic		NC_000023.10:g.(64 004960_64004964)_( 64062233_64062237) del	GRCh37 (hg19)		NC_000023.10	ChrX	64,004,962 (-2, +2)	64,062,235 (-2, +2)
essv25364287	Submitted genomic		NC_000023.10:g.(64 004960_64004964)_( 64062233_64062237) del	GRCh37 (hg19)		NC_000023.10	ChrX	64,004,962 (-2, +2)	64,062,235 (-2, +2)
essv25364288	Submitted genomic		NC_000023.10:g.(64 004960_64004964)_( 64062233_64062237) del	GRCh37 (hg19)		NC_000023.10	ChrX	64,004,962 (-2, +2)	64,062,235 (-2, +2)
essv25364289	Submitted genomic		NC_000023.10:g.(64 004960_64004964)_( 64062233_64062237) del	GRCh37 (hg19)		NC_000023.10	ChrX	64,004,962 (-2, +2)	64,062,235 (-2, +2)
essv25364290	Submitted genomic		NC_000023.10:g.(64 004960_64004964)_( 64062233_64062237) del	GRCh37 (hg19)		NC_000023.10	ChrX	64,004,962 (-2, +2)	64,062,235 (-2, +2)
essv25364291	Submitted genomic		NC_000023.10:g.(64 004960_64004964)_( 64062233_64062237) del	GRCh37 (hg19)		NC_000023.10	ChrX	64,004,962 (-2, +2)	64,062,235 (-2, +2)
essv25364292	Submitted genomic		NC_000023.10:g.(64 004960_64004964)_( 64062233_64062237) del	GRCh37 (hg19)		NC_000023.10	ChrX	64,004,962 (-2, +2)	64,062,235 (-2, +2)
essv25364293	Submitted genomic		NC_000023.10:g.(64 004960_64004964)_( 64062233_64062237) del	GRCh37 (hg19)		NC_000023.10	ChrX	64,004,962 (-2, +2)	64,062,235 (-2, +2)
essv25364294	Submitted genomic		NC_000023.10:g.(64 004960_64004964)_( 64062233_64062237) del	GRCh37 (hg19)		NC_000023.10	ChrX	64,004,962 (-2, +2)	64,062,235 (-2, +2)
essv25364295	Submitted genomic		NC_000023.10:g.(64 004960_64004964)_( 64062233_64062237) del	GRCh37 (hg19)		NC_000023.10	ChrX	64,004,962 (-2, +2)	64,062,235 (-2, +2)
essv25364296	Submitted genomic		NC_000023.10:g.(64 004960_64004964)_( 64062233_64062237) del	GRCh37 (hg19)		NC_000023.10	ChrX	64,004,962 (-2, +2)	64,062,235 (-2, +2)
essv25364297	Submitted genomic		NC_000023.10:g.(64 004960_64004964)_( 64062233_64062237) del	GRCh37 (hg19)		NC_000023.10	ChrX	64,004,962 (-2, +2)	64,062,235 (-2, +2)
essv25364298	Submitted genomic		NC_000023.10:g.(64 004960_64004964)_( 64062233_64062237) del	GRCh37 (hg19)		NC_000023.10	ChrX	64,004,962 (-2, +2)	64,062,235 (-2, +2)
essv25364299	Submitted genomic		NC_000023.10:g.(64 004960_64004964)_( 64062233_64062237) del	GRCh37 (hg19)		NC_000023.10	ChrX	64,004,962 (-2, +2)	64,062,235 (-2, +2)
essv25364300	Submitted genomic		NC_000023.10:g.(64 004960_64004964)_( 64062233_64062237) del	GRCh37 (hg19)		NC_000023.10	ChrX	64,004,962 (-2, +2)	64,062,235 (-2, +2)

dbVar

Database of genomic structural variation

esv3889081

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.