A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675311



Internal ID9941416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28896382..28896714hg38UCSC Ensembl
chr8:28753899..28754231hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5572825, essv6011351, essv5560699, essv5611025, essv5750189, essv6124659, essv5791468, essv6160176, essv5544558, essv6416770, essv6447541, essv5793034, essv5479916, essv6285759, essv5986341, essv6081736, essv5523140, essv6294884, essv5651372, essv6071184, essv6538213, essv6383292, essv6443501, essv5923402, essv6076258, essv5541541, essv5741150, essv6348075, essv6590653, essv6570316, essv6115219, essv5799983, essv5656572, essv5915234, essv6419694, essv5757262, essv6034779, essv6491852, essv5633631, essv6121328, essv6355530, essv5992747, essv5465788, essv6291777, essv5450299, essv5667788, essv5634616, essv5616801, essv5568550, essv5405928, essv6354884, essv6285740, essv5901806, essv5534860, essv5555696, essv5396291, essv5598698, essv5402496, essv6033237, essv6417271, essv5662763, essv5640936, essv5827503, essv5599732, essv6220750, essv6183072, essv5920053, essv6552488, essv5977211, essv5427640, essv6270772, essv6148257, essv5993451, essv5702957, essv5650670, essv5926523, essv5954634, essv5456172, essv5873660, essv6327220, essv5757453, essv5632212, essv5890184, essv6586980, essv6217666, essv6414638, essv6223247, essv5870789, essv6331657, essv6105815, essv6264835, essv6477178, essv6289141, essv5628722, essv5718468, essv5521314, essv5733181, essv5447032, essv5729795, essv6445756, essv5872553, essv6067260, essv5777055, essv6147213, essv5857331, essv5424061
SamplesNA20588, NA19394, NA12383, HG00114, NA20761, NA12717, NA19648, NA12842, NA11829, HG00361, NA10851, HG01052, NA11920, NA20531, HG00315, NA20752, HG00318, HG00181, HG00153, HG00179, HG00115, HG01051, NA12750, NA12399, NA12155, HG00271, NA19746, NA19171, NA20796, HG00272, NA19762, HG01177, HG00736, NA11992, HG00346, HG01354, HG01083, HG00185, NA11930, HG00139, NA20539, NA12275, NA12005, HG01069, NA19720, HG01080, HG00335, HG00236, HG00325, NA11932, HG01440, NA20811, HG00160, NA19725, HG00323, NA19789, HG00137, HG01183, HG01136, NA12489, HG00183, HG00282, NA19403, HG00328, NA20314, HG00320, HG00344, HG01498, HG00324, NA11919, NA20538, NA12249, HG00140, NA19452, NA18858, HG01204, NA19685, HG01148, HG00258, NA20801, NA20815, HG00357, HG00136, NA20804, NA19380, NA20778, NA20504, HG00116, NA07037, HG00256, HG01342, NA19818, HG00111, HG00259, HG00329, NA12749, HG00342, HG01055, HG00186, HG01251, HG00252, NA11892, HG01378, HG01082, HG00345, NA12776
Known GenesHMBOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675311
Frequency
Sample Size1151
Observed Gain0
Observed Loss106
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer