Variant Details

Variant: esv2671399

Internal ID

9590818

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:757634..765617	hg38	UCSC Ensembl
	chr12:866800..874783	hg19	UCSC Ensembl

Cytoband

12p13.33

Allele length

Assembly	Allele length
hg38	7984
hg19	7984

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv254e199

Supporting Variants

essv5970516, essv5868170, essv6011547, essv5629027, essv5798684, essv5984475, essv6494651, essv6136989, essv5841748, essv6300546, essv5582802, essv6338513, essv5751040, essv5700414, essv5624375, essv5560080, essv6267489, essv6348657, essv5618656, essv5654318, essv5579667, essv6124384, essv6515721, essv6265381, essv6106379, essv6439002, essv5618705, essv6401174, essv6210449, essv5844047, essv6571554, essv6481721, essv6168891, essv5604298, essv6143337, essv5509903, essv6580042, essv5560104, essv6237417, essv5710696, essv6375074, essv6211813, essv5923736, essv5878884, essv6123482, essv5955729, essv5739725, essv5444655, essv6297861, essv6490328, essv5949594, essv5942061, essv6299039, essv6455893, essv5972916, essv5420810, essv6214796, essv5991894, essv6452702, essv5775360, essv6048101, essv6317650, essv5698456, essv6314411, essv6159221, essv6231361, essv5818060, essv5545030, essv6460757, essv6339675, essv6295016, essv5718110, essv5488478, essv5908129, essv6083214, essv6154102, essv5897652, essv6214541, essv6034559, essv5633540, essv5647856, essv5732119, essv5557643, essv6089650, essv5913447, essv6328366, essv6503453, essv6261659, essv5918525, essv6134605, essv5887673, essv5395560, essv6406791, essv5826316, essv5764633, essv6092584, essv6510858, essv5932764, essv6535394, essv6153413, essv5944796, essv6153553, essv5907940, essv5949310, essv6547975, essv6504367, essv6116384, essv5487722, essv5553104, essv6165261, essv6082436, essv6206758, essv5821955, essv5547768, essv6333820, essv5598165, essv5697703, essv5566558, essv6586952, essv5979415, essv6078259, essv5886604, essv6580825, essv5609297, essv6519594, essv6270249, essv6338891, essv6041420, essv6486327, essv6290904, essv6135706, essv5544579, essv5915130, essv5750431

Samples

NA20588, HG00189, NA20761, NA12717, HG00143, NA19055, NA12286, NA11995, HG00242, NA10851, HG00559, NA19914, NA19704, NA12843, NA20813, NA20752, HG00233, NA20512, NA12045, HG00318, HG00103, HG01456, HG00737, NA20808, NA18616, HG00150, NA20517, HG01461, NA12400, NA12750, NA12155, HG01140, HG00663, NA20537, NA18563, NA20589, NA20586, HG00173, NA20756, NA11992, NA20540, NA19054, HG00369, NA20513, HG00243, NA20291, HG00158, NA18611, HG00281, HG01069, HG01080, NA11932, HG00422, NA12889, HG00309, HG00182, HG00326, NA20757, NA20533, NA19985, NA20753, HG00260, HG01353, HG00133, HG00154, NA18605, NA18613, HG00443, HG00328, HG00653, HG00475, NA19663, HG00583, NA12718, NA20519, HG00740, NA20525, HG01094, HG00273, NA19449, HG00404, HG00373, NA11894, NA06989, HG00157, HG01334, HG00144, HG00146, NA18963, HG00704, HG00463, NA12778, NA18945, HG00258, NA20799, NA19729, HG00611, NA18632, HG00124, HG00155, NA12716, HG00254, HG00119, HG00336, NA18559, HG00353, NA19473, HG00375, HG00357, NA20804, HG00278, NA19773, NA19835, NA19679, HG00319, NA20516, HG00256, HG00418, NA18615, HG00339, HG00125, HG00342, NA20786, NA20807, HG00131, NA19080, HG00343, HG00252, NA20503, NA20502, NA11892, HG00345, HG01191, NA20754

Known Genes

WNK1

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

High quality site

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2671399

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	134
Observed Complex	0
Frequency	n/a