esv3816342

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
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 Project Consortium et al. 2015

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: 474 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
esv3816342	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	64,785,082 (-2, +2)	64,842,355 (-2, +2)
esv3816342	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
essv16708639	deletion	SAMN00006412	Sequencing	Read depth and paired-end mapping	Heterozygous	3,016
essv16708640	deletion	SAMN00249835	Sequencing	Read depth and paired-end mapping	Heterozygous	2,717
essv16708641	deletion	SAMN00249844	Sequencing	Read depth and paired-end mapping	Heterozygous	2,523
essv16708642	deletion	SAMN01761348	Sequencing	Read depth and paired-end mapping	Heterozygous	3,263
essv16708643	deletion	SAMN01096702	Sequencing	Read depth and paired-end mapping	Heterozygous	2,627
essv16708644	deletion	SAMN00001593	Sequencing	Read depth and paired-end mapping	Heterozygous	2,764
essv16708645	deletion	SAMN00000423	Sequencing	Read depth and paired-end mapping	Heterozygous	2,679
essv16708646	deletion	SAMN00001607	Sequencing	Read depth and paired-end mapping	Heterozygous	2,740
essv16708647	deletion	SAMN00000503	Sequencing	Read depth and paired-end mapping	Heterozygous	2,580
essv16708648	deletion	SAMN00000508	Sequencing	Read depth and paired-end mapping	Heterozygous	2,718
essv16708649	deletion	SAMN00000520	Sequencing	Read depth and paired-end mapping	Heterozygous	2,779
essv16708650	deletion	SAMN00001117	Sequencing	Read depth and paired-end mapping	Heterozygous	4,071
essv16708651	deletion	SAMN00001226	Sequencing	Read depth and paired-end mapping	Heterozygous	3,613
essv16708652	deletion	SAMN00001249	Sequencing	Read depth and paired-end mapping	Heterozygous	3,557
essv16708653	deletion	SAMN00001252	Sequencing	Read depth and paired-end mapping	Heterozygous	3,317

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16708639	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)
essv16708640	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)
essv16708641	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)
essv16708642	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)
essv16708643	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)
essv16708644	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)
essv16708645	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)
essv16708646	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)
essv16708647	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)
essv16708648	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)
essv16708649	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)
essv16708650	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)
essv16708651	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)
essv16708652	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)
essv16708653	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)
essv16708639	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)
essv16708640	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)
essv16708641	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)
essv16708642	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)
essv16708643	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)
essv16708644	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)
essv16708645	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)
essv16708646	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)
essv16708647	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)
essv16708648	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)
essv16708649	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)
essv16708650	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)
essv16708651	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)
essv16708652	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)
essv16708653	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

esv3816342

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.