Variant Details

Variant: esv2660506

Internal ID

9579925

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:121266605..121267602	hg38	UCSC Ensembl
	chr12:121704408..121705405	hg19	UCSC Ensembl

Cytoband

12q24.31

Allele length

Assembly	Allele length
hg38	998
hg19	998

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5428665, essv5838850, essv6460173, essv6547542, essv5584023, essv6342749, essv5807580, essv5731674, essv5607095, essv6499800, essv6022223, essv6008648, essv5652915, essv6251629, essv6562155, essv6573465, essv6530602, essv5624524, essv5923071, essv6569971, essv5730964, essv5736733, essv5543801, essv5470511, essv6086154, essv5697641, essv6001228, essv6468909, essv6286295, essv5925408, essv5457385, essv5454838, essv6490402, essv5745509, essv5920489, essv5485876, essv6491401, essv6375546, essv5678656, essv5652412, essv5424651, essv5940222, essv6216094, essv6326099, essv6581983, essv6375286, essv5578225, essv6065011, essv6480504, essv5749663, essv6234550, essv6567522, essv6242196, essv5846499, essv5739328, essv6318184, essv6573943, essv6163325, essv5969134, essv5649016, essv5416585, essv6109175, essv6431659, essv5804691, essv5416193, essv6528706, essv6424658, essv6021241, essv5447076, essv5891977, essv5839802, essv6552461, essv5637011, essv6322469, essv6357945, essv6111761, essv5917947, essv5757451, essv5911099, essv5992042, essv6111605, essv5797677, essv6458624, essv6437565, essv6180546, essv5994313, essv5539597, essv5485003, essv6387175, essv5820081, essv5641188, essv6320148, essv5895080, essv6395118, essv6091380, essv5941892, essv5720374, essv6225130, essv6409922, essv6270503, essv6497839, essv5871510, essv6090245

Samples

HG01441, NA19397, NA19066, NA19399, HG01389, NA19355, NA19393, NA20805, NA20332, HG00737, NA18526, NA19067, HG00337, HG00663, NA19446, NA19379, NA18550, NA20798, HG01351, HG01177, NA20768, NA19313, NA18498, NA20287, NA19904, NA19079, HG00281, HG00120, NA18868, NA20340, NA19371, NA19385, NA19471, NA19002, NA19901, NA19189, NA20342, NA20127, NA19789, HG01124, NA19007, NA19437, NA18538, HG01360, NA20787, NA18934, HG00428, NA19347, NA18956, NA19455, NA19658, NA18871, NA20770, NA20525, NA19114, HG00250, HG01197, NA18553, NA12827, NA18523, NA18536, NA12778, NA18858, NA18634, NA18945, NA18546, NA19401, NA19375, NA19729, NA18542, NA18533, NA19390, NA18952, NA19256, NA19072, NA18950, HG01551, NA19435, NA19331, HG00278, NA20792, NA20778, NA19679, NA19439, NA20504, NA19428, HG00116, NA19083, NA20797, NA12763, NA19376, HG01055, NA20758, NA19116, NA19213, HG00377, HG00274, HG00472, NA18505, NA18488, HG01191, HG01061, NA20772

Known Genes

CAMKK2

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)

esv2660506

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	103
Observed Complex	0
Frequency	n/a