Variant Details

Variant: esv2676983

Internal ID

9943088

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr16:1450693..1450939	hg38	UCSC Ensembl
	chr16:1500694..1500940	hg19	UCSC Ensembl

Cytoband

16p13.3

Allele length

Assembly	Allele length
hg38	247
hg19	247

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5822903, essv6416992, essv5537643, essv5767173, essv6386637, essv6139679, essv6482558, essv5985170, essv6465068, essv5876181, essv5874902, essv5596684, essv6066153, essv6560769, essv5488794, essv5578807, essv5462420, essv6577951, essv6509998, essv5680479, essv6186548, essv5893579, essv6047069, essv6060907, essv6357253, essv5631650, essv6500309, essv5724283, essv6125838, essv6414400, essv5951967, essv5926926, essv6468220, essv5829239, essv6547045, essv6173574, essv6064845, essv5975770, essv5858916, essv5676982, essv6267010, essv6241984, essv6224162, essv5549739, essv6138422, essv5610758, essv6352157, essv6506044, essv5982828, essv5817006, essv6320182, essv5465460, essv5498867, essv5899958, essv6593773, essv6167118, essv5548283, essv6100444, essv5495139, essv5597072, essv5865190, essv5432544, essv6055823, essv6564757, essv5898677, essv6487249, essv5905586, essv5595154, essv5943484, essv6280387, essv6538888, essv5721236, essv6262025, essv5618022, essv6351503, essv6459509, essv5546412, essv5466443, essv6344835, essv6196648, essv5866277, essv5491317, essv5667588, essv6009295, essv6147626, essv5975434, essv6249205, essv5578493, essv6576112, essv5886650, essv5507325, essv6087543, essv6417316, essv6271983, essv5437886, essv5638732, essv5722791, essv5473813, essv5457868, essv6440103, essv6340617, essv5521407, essv5772308, essv5911135, essv6028565, essv5799301, essv5397789, essv5397943, essv5865764, essv6053209, essv6306480, essv5475442, essv6237240

Samples

NA19394, NA18502, HG01098, NA12842, NA19466, NA11995, HG00315, HG00318, NA19350, NA19359, NA18486, NA19355, NA18504, NA12750, NA20806, NA12813, NA20814, NA07346, HG01351, NA20586, HG00173, NA20774, NA19723, NA20769, NA07347, NA12283, NA20540, HG01083, NA18498, HG01365, NA19130, NA18949, NA12761, HG00335, HG01170, HG00325, HG00232, NA19372, NA19238, NA19172, NA20811, NA18520, HG01048, HG01133, NA19445, NA20757, NA20755, NA19451, NA18638, HG00260, HG00133, NA12777, NA19210, NA20800, HG01187, HG01171, NA19707, NA20505, NA19152, NA12878, HG01095, NA18516, NA18910, HG01047, HG01073, NA20299, NA19655, NA18499, NA18856, NA19453, NA12892, NA18853, NA19099, NA19257, NA19452, NA12144, NA18523, NA18858, NA20765, NA12043, NA18608, NA19401, HG00124, NA20801, HG01190, NA18961, NA19434, NA19473, HG00357, NA19444, NA19380, NA19144, NA12046, NA20527, HG01375, NA20803, NA12763, HG00339, HG00111, NA19248, NA19472, NA19093, HG00174, NA12830, NA19116, HG00252, HG01378, HG01082, NA12006, NA18522, NA12154, NA20754, HG01516

Known Genes

CLCN7

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2676983

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	113
Observed Complex	0
Frequency	n/a