Variant Details

Variant: esv3588478

Internal ID

6975895

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:196813225..196934743	hg38	UCSC Ensembl
Inner	chr1:196813725..196934243	hg38	UCSC Ensembl
Outer	chr1:196812225..196935743	hg38	UCSC Ensembl
	chr1:196782355..196903873	hg19	UCSC Ensembl
Inner	chr1:196782855..196903373	hg19	UCSC Ensembl
Outer	chr1:196781355..196904873	hg19	UCSC Ensembl

Cytoband

1q31.3

Allele length

Assembly	Allele length
hg38	121519
hg19	121519

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10253274, essv10253275, essv10253258, essv10253282, essv10253286, essv10253265, essv10253249, essv10253246, essv10253304, essv10253323, essv10253250, essv10253259, essv10253290, essv10253270, essv10253262, essv10253298, essv10253269, essv10253316, essv10253278, essv10253263, essv10253251, essv10253238, essv10253292, essv10253261, essv10253288, essv10253318, essv10253253, essv10253266, essv10253311, essv10253281, essv10253240, essv10253271, essv10253287, essv10253284, essv10253296, essv10253276, essv10253256, essv10253307, essv10253279, essv10253306, essv10253317, essv10253243, essv10253300, essv10253305, essv10253297, essv10253257, essv10253255, essv10253295, essv10253299, essv10253245, essv10253315, essv10253301, essv10253325, essv10253322, essv10253272, essv10253280, essv10253327, essv10253254, essv10253267, essv10253239, essv10253268, essv10253237, essv10253294, essv10253241, essv10253293, essv10253302, essv10253236, essv10253313, essv10253242, essv10253328, essv10253314, essv10253320, essv10253310, essv10253283, essv10253321, essv10253289, essv10253308, essv10253273, essv10253235, essv10253248, essv10253247, essv10253324, essv10253303, essv10253277, essv10253309, essv10253291, essv10253244, essv10253312, essv10253234, essv10253326, essv10253319, essv10253285, essv10253260, essv10253252, essv10253264

Samples

NA18745, HG00650, HG01855, NA21099, HG03517, NA19704, HG02337, HG02029, HG00315, HG03115, HG03521, NA20298, HG01802, HG03100, NA18870, NA18526, HG00327, NA20814, NA19446, NA19068, NA18563, HG00251, NA18597, NA18489, HG03943, HG00689, HG00173, NA19131, HG02130, NA18642, NA19130, NA19038, NA18611, HG02512, HG02634, NA20340, HG00534, HG03195, HG03073, NA19456, HG01524, HG00982, HG04225, HG01871, NA18956, HG02108, NA19663, HG03457, HG02497, HG01029, HG01630, NA20876, HG03311, HG00324, HG03563, HG03472, HG00651, HG00479, HG03388, HG01705, HG01403, NA18634, HG03238, NA19308, NA19003, HG02557, NA19256, NA19149, HG03539, HG02064, HG00580, HG02314, NA19428, HG04090, NA21094, HG02558, NA20888, HG00707, HG02974, NA20582, HG03279, HG02107, HG01799, HG03351, HG00186, HG00280, NA19213, HG00343, NA18505, HG00171, HG03198, HG00554, NA18549, HG03129, HG01805

Known Genes

CFHR1, CFHR4

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3588478

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	95
Observed Complex	0
Frequency	n/a