A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672196



Internal ID9938301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:75389377..75396884hg38UCSC Ensembl
chr9:78004293..78011800hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg387508
hg197508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1352e199
Supporting Variantsessv5768883, essv6250504, essv5675844, essv6488381, essv6313555, essv6249254, essv6460299, essv5874982, essv6272655, essv6016273, essv6058614, essv5876546, essv5659435, essv6083567, essv5597776, essv5823464, essv5758686, essv5437312, essv6079878, essv5641309, essv5395599, essv5637976, essv6240302, essv5545028, essv6114347, essv6212738, essv5667670, essv5858630, essv6366073, essv5994935, essv5586270, essv5879071, essv5927708, essv6359605, essv5470626, essv6366404, essv5451085, essv5755767, essv6399627, essv6190353, essv5861976, essv5419818, essv6367198, essv6025186, essv5727724, essv6589496, essv6277838, essv5639061, essv5813249, essv5669039, essv5929328, essv6318916, essv6226864, essv6288399, essv5517790, essv6001598, essv5959197, essv5992598, essv6502391, essv6035094, essv5499637, essv5729895, essv6079829, essv6597654, essv5641221, essv6029006, essv5776846, essv5440069, essv6210688, essv6063859, essv5871151, essv6541099
SamplesNA11995, NA19914, HG00100, NA20531, HG01389, HG00151, NA20532, NA12045, NA20805, NA12340, NA12058, HG01518, HG00261, HG01070, HG00272, HG01177, HG00173, NA20795, NA11992, NA20768, HG01083, NA20513, HG00277, NA12275, HG01067, NA12156, HG00236, HG00262, NA12044, HG01440, HG01048, HG00326, HG01550, HG00253, HG00268, HG00282, NA19670, HG00145, HG00245, NA12342, NA12003, NA19788, HG00284, HG01073, HG00250, NA06989, HG01334, NA19761, HG00246, NA19675, NA12043, HG00258, NA20801, NA12716, HG00375, HG00136, HG00638, HG01357, NA20790, HG00237, NA19679, NA07037, NA06986, HG00339, HG00269, NA19785, HG00342, HG00310, NA20528, HG00372, HG00171, HG00345
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672196
Frequency
Sample Size1151
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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