esv3645347

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:14
Validation:Not tested
Clinical Assertions: No
Region Size:35,380

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: 1554 SVs from 86 studies. See in: genome view

Remapped(Score: Perfect):14,837,914-14,873,326

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3645347	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	14,837,930 (-16, +17)	14,873,309 (-16, +17)
esv3645347	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	14,818,576 (-16, +17)	14,853,955 (-16, +17)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16144780	deletion	SAMN01761628	Sequencing	Read depth and paired-end mapping	Heterozygous	2,821
essv16144781	deletion	SAMN00249780	Sequencing	Read depth and paired-end mapping	Heterozygous	2,799
essv16144782	deletion	SAMN01090852	Sequencing	Read depth and paired-end mapping	Heterozygous	3,047
essv16144783	deletion	SAMN01096671	Sequencing	Read depth and paired-end mapping	Heterozygous	2,679
essv16144784	deletion	SAMN01090991	Sequencing	Read depth and paired-end mapping	Heterozygous	2,819
essv16144785	deletion	SAMN01761464	Sequencing	Read depth and paired-end mapping	Heterozygous	2,350
essv16144786	deletion	SAMN00001021	Sequencing	Read depth and paired-end mapping	Heterozygous	3,301
essv16144787	deletion	SAMN00000534	Sequencing	Read depth and paired-end mapping	Heterozygous	2,491
essv16144788	deletion	SAMN00001117	Sequencing	Read depth and paired-end mapping	Heterozygous	4,071
essv16144789	deletion	SAMN00004483	Sequencing	Read depth and paired-end mapping	Heterozygous	2,814
essv16144790	deletion	SAMN00001286	Sequencing	Read depth and paired-end mapping	Heterozygous	2,761
essv16144791	deletion	SAMN00007881	Sequencing	Read depth and paired-end mapping	Heterozygous	2,794
essv16144792	deletion	SAMN00007922	Sequencing	Read depth and paired-end mapping	Heterozygous	2,677
essv16144793	deletion	SAMN00007951	Sequencing	Read depth and paired-end mapping	Heterozygous	2,651

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16144780	Remapped	Perfect	NC_000020.11:g.(14 837914_14837947)_( 14873293_14873326) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,837,930 (-16, +17)	14,873,309 (-16, +17)
essv16144781	Remapped	Perfect	NC_000020.11:g.(14 837914_14837947)_( 14873293_14873326) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,837,930 (-16, +17)	14,873,309 (-16, +17)
essv16144782	Remapped	Perfect	NC_000020.11:g.(14 837914_14837947)_( 14873293_14873326) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,837,930 (-16, +17)	14,873,309 (-16, +17)
essv16144783	Remapped	Perfect	NC_000020.11:g.(14 837914_14837947)_( 14873293_14873326) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,837,930 (-16, +17)	14,873,309 (-16, +17)
essv16144784	Remapped	Perfect	NC_000020.11:g.(14 837914_14837947)_( 14873293_14873326) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,837,930 (-16, +17)	14,873,309 (-16, +17)
essv16144785	Remapped	Perfect	NC_000020.11:g.(14 837914_14837947)_( 14873293_14873326) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,837,930 (-16, +17)	14,873,309 (-16, +17)
essv16144786	Remapped	Perfect	NC_000020.11:g.(14 837914_14837947)_( 14873293_14873326) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,837,930 (-16, +17)	14,873,309 (-16, +17)
essv16144787	Remapped	Perfect	NC_000020.11:g.(14 837914_14837947)_( 14873293_14873326) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,837,930 (-16, +17)	14,873,309 (-16, +17)
essv16144788	Remapped	Perfect	NC_000020.11:g.(14 837914_14837947)_( 14873293_14873326) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,837,930 (-16, +17)	14,873,309 (-16, +17)
essv16144789	Remapped	Perfect	NC_000020.11:g.(14 837914_14837947)_( 14873293_14873326) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,837,930 (-16, +17)	14,873,309 (-16, +17)
essv16144790	Remapped	Perfect	NC_000020.11:g.(14 837914_14837947)_( 14873293_14873326) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,837,930 (-16, +17)	14,873,309 (-16, +17)
essv16144791	Remapped	Perfect	NC_000020.11:g.(14 837914_14837947)_( 14873293_14873326) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,837,930 (-16, +17)	14,873,309 (-16, +17)
essv16144792	Remapped	Perfect	NC_000020.11:g.(14 837914_14837947)_( 14873293_14873326) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,837,930 (-16, +17)	14,873,309 (-16, +17)
essv16144793	Remapped	Perfect	NC_000020.11:g.(14 837914_14837947)_( 14873293_14873326) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,837,930 (-16, +17)	14,873,309 (-16, +17)
essv16144780	Submitted genomic		NC_000020.10:g.(14 818560_14818593)_( 14853939_14853972) del	GRCh37 (hg19)		NC_000020.10	Chr20	14,818,576 (-16, +17)	14,853,955 (-16, +17)
essv16144781	Submitted genomic		NC_000020.10:g.(14 818560_14818593)_( 14853939_14853972) del	GRCh37 (hg19)		NC_000020.10	Chr20	14,818,576 (-16, +17)	14,853,955 (-16, +17)
essv16144782	Submitted genomic		NC_000020.10:g.(14 818560_14818593)_( 14853939_14853972) del	GRCh37 (hg19)		NC_000020.10	Chr20	14,818,576 (-16, +17)	14,853,955 (-16, +17)
essv16144783	Submitted genomic		NC_000020.10:g.(14 818560_14818593)_( 14853939_14853972) del	GRCh37 (hg19)		NC_000020.10	Chr20	14,818,576 (-16, +17)	14,853,955 (-16, +17)
essv16144784	Submitted genomic		NC_000020.10:g.(14 818560_14818593)_( 14853939_14853972) del	GRCh37 (hg19)		NC_000020.10	Chr20	14,818,576 (-16, +17)	14,853,955 (-16, +17)
essv16144785	Submitted genomic		NC_000020.10:g.(14 818560_14818593)_( 14853939_14853972) del	GRCh37 (hg19)		NC_000020.10	Chr20	14,818,576 (-16, +17)	14,853,955 (-16, +17)
essv16144786	Submitted genomic		NC_000020.10:g.(14 818560_14818593)_( 14853939_14853972) del	GRCh37 (hg19)		NC_000020.10	Chr20	14,818,576 (-16, +17)	14,853,955 (-16, +17)
essv16144787	Submitted genomic		NC_000020.10:g.(14 818560_14818593)_( 14853939_14853972) del	GRCh37 (hg19)		NC_000020.10	Chr20	14,818,576 (-16, +17)	14,853,955 (-16, +17)
essv16144788	Submitted genomic		NC_000020.10:g.(14 818560_14818593)_( 14853939_14853972) del	GRCh37 (hg19)		NC_000020.10	Chr20	14,818,576 (-16, +17)	14,853,955 (-16, +17)
essv16144789	Submitted genomic		NC_000020.10:g.(14 818560_14818593)_( 14853939_14853972) del	GRCh37 (hg19)		NC_000020.10	Chr20	14,818,576 (-16, +17)	14,853,955 (-16, +17)
essv16144790	Submitted genomic		NC_000020.10:g.(14 818560_14818593)_( 14853939_14853972) del	GRCh37 (hg19)		NC_000020.10	Chr20	14,818,576 (-16, +17)	14,853,955 (-16, +17)
essv16144791	Submitted genomic		NC_000020.10:g.(14 818560_14818593)_( 14853939_14853972) del	GRCh37 (hg19)		NC_000020.10	Chr20	14,818,576 (-16, +17)	14,853,955 (-16, +17)
essv16144792	Submitted genomic		NC_000020.10:g.(14 818560_14818593)_( 14853939_14853972) del	GRCh37 (hg19)		NC_000020.10	Chr20	14,818,576 (-16, +17)	14,853,955 (-16, +17)
essv16144793	Submitted genomic		NC_000020.10:g.(14 818560_14818593)_( 14853939_14853972) del	GRCh37 (hg19)		NC_000020.10	Chr20	14,818,576 (-16, +17)	14,853,955 (-16, +17)

dbVar

Database of genomic structural variation

esv3645347

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.