Variant Details

Variant: esv2664414

Internal ID

9930519

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:196764486..196848092	hg38	UCSC Ensembl
Outer	chr1:196764065..196848462	hg38	UCSC Ensembl
Inner	chr1:196733616..196817222	hg19	UCSC Ensembl
Outer	chr1:196733195..196817592	hg19	UCSC Ensembl

Cytoband

1q31.3

Allele length

Assembly	Allele length
hg38	84398
hg19	84398

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv87e199

Supporting Variants

essv6153939, essv5963508, essv6069336, essv6042270, essv5566229, essv6376699, essv5501020, essv6231933, essv6308786, essv6358167, essv5551970, essv5827467, essv5978514, essv6009320, essv6507048, essv6050590, essv5715768, essv6075197, essv6151358, essv5531378, essv5487361, essv5802030, essv6117277, essv5412375, essv5691632, essv5422787, essv6335000, essv5940560, essv5873261, essv5633042, essv5974045, essv6570265, essv6323201, essv6371856, essv5649099, essv5648314, essv5450913, essv6011860, essv5992167, essv6211786, essv6410255, essv5725744, essv6416050, essv5941771, essv6125953, essv5825059, essv5721461, essv6121366, essv5445631, essv5411384, essv5607977, essv5880501

Samples

NA19701, NA19700, HG01356, NA19703, HG01462, NA19914, NA19704, HG01389, HG01465, NA20332, NA20346, NA20356, NA19920, HG01140, HG01250, HG01366, HG01351, NA20317, HG01354, NA19904, NA20291, HG01495, NA19917, HG01440, NA19901, NA20342, NA19985, HG01136, NA19908, HG01384, NA20126, NA20344, NA20299, NA20282, NA19625, NA20296, HG01148, NA20276, HG01253, NA19835, HG01113, NA20281, HG01342, NA20341, NA19818, NA19713, HG01254, NA20289, HG01377, NA20322, HG01112, HG01437

Known Genes

CFHR1, CFHR3

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2664414

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	52
Observed Complex	0
Frequency	n/a