A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675570



Internal ID9941675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46099028..46099351hg38UCSC Ensembl
chr17:44176394..44176717hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5785132, essv6022996, essv6428225, essv5628117, essv6142662, essv6542844, essv6246080, essv5901677, essv6405604, essv6178325, essv6393921, essv5827314, essv6327450, essv6311504, essv5628055, essv5853898, essv5645576, essv5480547, essv6151270, essv6094587, essv5494891, essv6549433, essv6112142, essv6407748, essv6415216, essv5940012, essv5958436, essv6194976, essv5765267, essv6231118, essv6540265, essv6097890, essv6588370, essv6378146, essv6230426, essv6416983, essv5622001, essv5955296, essv6099706, essv5544710, essv5496102, essv5879991, essv6565844, essv6214481, essv6511298, essv6380793, essv6135917, essv6319485, essv5688489, essv6133718, essv5707752, essv6182682, essv6008986, essv5503034, essv6446440, essv6034998, essv5538879, essv5818768, essv6473978, essv5590560, essv5493554, essv6271691, essv6577966, essv5928005, essv6000800, essv5666783, essv5633922, essv6588214, essv5585623, essv6245191, essv6504029, essv5880914, essv5554166, essv6588216, essv5808575, essv6420113, essv5812709, essv6129589, essv5561315, essv5725147, essv6394076, essv6001554, essv5552276, essv5762755, essv6162639, essv6030173, essv6576049, essv6237979, essv5998631, essv5617218, essv5408787, essv6154543, essv6319931, essv5507658, essv5999332, essv5832778, essv6588888, essv5489419, essv5727752, essv5645817, essv5741615, essv6202055, essv5653717, essv6427277, essv6060265, essv5938547, essv5622299, essv5773628, essv5570835, essv5551342, essv6301654, essv6047778, essv5440805, essv6490008, essv5396456, essv6287013, essv5556768, essv5665763, essv6531217, essv6062573, essv6157403, essv6306288, essv5786484, essv5417375, essv5781273, essv5458229, essv5429533, essv5803938, essv6488743, essv5603951, essv6509986, essv6432918, essv5944973, essv6149145, essv5426802, essv6467095, essv5521804, essv6112772, essv6248822, essv6590359, essv6023559, essv5966692, essv6344837, essv5689125, essv5491715, essv5433236
SamplesNA20509, HG01516, HG00096, NA12383, HG01060, HG00114, NA19648, NA12286, NA11995, HG01052, HG00100, NA12843, NA11920, NA11933, NA11931, HG01389, HG01374, HG00315, NA20816, HG00233, NA20802, NA20532, NA20512, NA12045, HG01465, NA19819, NA12340, HG00150, HG01051, NA12155, NA20806, HG01140, NA20814, HG00138, HG00127, HG00251, NA20589, HG01177, NA19678, NA19723, NA20756, NA20795, NA12348, HG01492, NA11992, NA20768, HG00247, NA19782, HG00158, NA20541, NA12761, NA20539, HG00277, NA19720, NA19651, HG00106, NA12156, HG01519, NA11932, HG01072, NA12889, HG00118, HG00159, HG01133, HG00326, NA20533, NA19985, NA20515, NA20755, NA12748, NA20818, NA10847, HG01353, HG00137, HG00133, NA20535, HG01171, NA19707, HG01384, HG00328, NA20505, NA20809, HG00344, HG00275, NA20506, NA12718, NA20519, HG01149, NA20770, HG00239, HG00740, HG01390, HG01102, NA20581, HG01197, NA06989, HG00321, HG00140, HG01334, HG00152, NA12144, NA20828, HG00246, HG00126, HG01107, HG01204, NA20765, NA20773, NA20522, HG00155, HG00254, NA11881, HG00265, NA19749, HG00136, NA20520, NA20530, NA20527, HG00237, NA19786, NA20516, NA20803, NA20797, HG00256, NA12763, NA06986, HG00125, NA19818, HG01491, HG00329, NA19713, HG00310, NA20807, HG00280, NA19726, NA20758, NA20826, NA19780, NA20528, HG00252, HG01377, HG01378, HG01082, HG00345, NA12890, HG00180
Known GenesKANSL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675570
Frequency
Sample Size1151
Observed Gain0
Observed Loss146
Observed Complex0
Frequencyn/a


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