A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664164



Internal ID9583583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19197748..19198020hg38UCSC Ensembl
chr8:19055258..19055530hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6015786, essv6594152, essv5712256, essv6152720, essv6078503, essv5625130, essv6437162, essv6153927, essv5436219, essv6074129, essv5526153, essv6327947, essv6370367, essv6485313, essv5708177, essv5895090, essv6212606, essv6572163, essv6228214, essv6158667, essv6189994, essv6077019, essv6477030, essv6473439, essv5519535, essv5739406, essv5634141, essv5696032, essv5429060, essv6074475, essv6010961, essv5997001, essv6422462, essv5713164, essv6402892, essv5548650, essv5991683, essv5492208, essv5654140, essv6109893, essv5533025, essv6133115, essv6110669, essv6478792, essv5764862, essv5977608, essv5423354, essv6524723, essv5400494, essv5522829, essv6077554, essv5893177, essv5407981, essv5660101, essv5842165, essv6533319, essv5846312, essv6418713, essv6179468, essv6217190, essv5842796, essv6202768, essv6165363, essv5632073, essv5395907, essv5885597, essv5545974, essv5565947, essv5553554, essv6242289, essv5570477, essv5979883, essv6561614, essv6478622, essv6253453, essv5664214, essv5663206, essv5685741, essv6387862, essv6283819, essv5610559, essv5731019, essv6152014, essv6361278, essv6050035, essv6359327, essv5707772, essv5986200, essv5707336, essv5712466, essv5716622, essv6116833, essv6165074, essv5777149, essv6536447, essv5995682, essv5661547, essv6427019, essv5924154, essv5785966, essv6565078, essv6416896, essv6245389, essv5914866, essv6199366, essv6078585, essv5839405, essv6195224, essv5981003, essv6284510, essv5648528, essv5921622, essv6575856, essv5779342, essv5705618, essv6119885, essv6445855, essv6502781, essv6082193, essv5836407, essv6429589, essv5796017, essv6540574, essv6533274, essv5935226, essv6569990, essv6144743, essv5416736, essv5843796, essv6403599
SamplesHG01357, NA11881, NA18964, NA12489, HG00318, NA07347, NA20771, NA20809, NA20503, NA18561, NA19404, NA18975, NA20516, HG01173, HG00369, HG01083, NA20544, NA20796, NA20531, NA11918, NA19003, HG01079, NA10847, NA18603, NA20775, NA18948, NA20759, NA11931, NA18516, NA12813, HG00117, HG01082, NA18953, HG01488, HG01174, NA20778, NA20786, NA19144, NA12058, NA20539, HG01204, NA18965, NA20521, HG01551, NA18943, HG00479, NA20586, HG00247, HG00266, NA12414, HG00154, HG01254, HG00158, NA20533, NA20819, NA12004, NA18536, HG00140, NA18960, NA20757, NA19722, HG00315, HG00125, HG01136, NA11894, NA11995, NA18982, NA19056, HG00284, NA12830, HG00343, NA19684, HG00133, HG01497, HG00159, NA12046, NA12892, HG00653, NA20536, HG00268, HG00732, NA12778, NA06986, HG00260, NA18558, HG00239, HG00273, HG00282, HG01170, HG00232, HG01356, HG00153, NA19707, HG00246, HG00377, NA20813, HG00236, NA18945, HG00151, NA18987, NA20581, NA20537, NA20756, NA12413, HG00138, HG00580, HG01390, NA12878, NA20507, NA11830, NA12003, HG00281, HG00285, NA11993, NA12842, NA19655, HG01366, NA18571, NA20543, NA11932, HG00566, NA11829, NA20524, NA20772, NA20519, HG00136, NA18519, NA18553, HG00327, HG00361
Known GenesLOC100128993
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664164
Frequency
Sample Size1151
Observed Gain0
Observed Loss130
Observed Complex0
Frequencyn/a


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