A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664743



Internal ID9930848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117861499..117863354hg38UCSC Ensembl
chr8:118873738..118875593hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381856
hg191856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5861329, essv5771153, essv5772397, essv5754660, essv5825515, essv5789138, essv6229140, essv6536975, essv5617819, essv5578918, essv6057399, essv5557347, essv5407200, essv5860133, essv5950593, essv6177503, essv5697189, essv5410845, essv5666636, essv6463486, essv5426437, essv5931626, essv5694414, essv6233581, essv6187747, essv6325200, essv5640413, essv5909803, essv5462697, essv5703354, essv6406620, essv6573183, essv6382876, essv5557886, essv6089110, essv5691499, essv5779287, essv6122690, essv6219481, essv6424708, essv5866582, essv5491700, essv6408180, essv5876298, essv6436947, essv6050149, essv6013810, essv6191962, essv5871243, essv5458822, essv5826022, essv6075289, essv5698892, essv6568068, essv5868669, essv5944517, essv5550076, essv5946694, essv5765851, essv5753103, essv5816432, essv5485833, essv6187272, essv5878611, essv6120966, essv6242263, essv6404148, essv6379816, essv6421575, essv5789169, essv6471189, essv6380285, essv5636967, essv6118756, essv5928476, essv5773285, essv5450400, essv5425654, essv5940079, essv5895455, essv5786580, essv5500930, essv6084573, essv6210144, essv5694250, essv6029817, essv6229079, essv5798341, essv5821001, essv6456544, essv6307496, essv6189232, essv5463115, essv5943237, essv5702116, essv5669582, essv5625207, essv5629439, essv6410319
SamplesHG00361, HG00242, HG01359, HG01052, HG00187, HG01374, HG00315, HG00306, NA12045, HG00640, NA19684, HG00449, HG00150, NA12400, NA12399, HG01140, NA12413, NA12341, HG00337, HG00271, HG00138, HG01350, HG00251, NA20798, NA19678, HG00173, HG01492, NA18618, HG00346, HG00247, HG00334, HG00537, HG00139, HG00277, HG01069, NA19720, HG01080, HG01067, HG00683, HG00335, HG00236, HG01072, NA11994, HG00309, HG00338, HG00159, HG00323, HG00253, HG00137, HG00188, HG00154, HG00149, NA18544, NA19657, HG00183, HG00176, HG00282, HG00245, HG00653, HG00577, HG01095, HG00584, HG00275, HG00239, NA19654, HG01102, HG00324, HG00273, NA06989, HG00140, HG00276, HG00246, NA19675, HG01204, NA19652, HG00119, HG00336, NA20815, HG00375, NA19679, HG01137, HG00319, HG00116, HG00256, NA12347, HG00339, HG00111, HG00312, NA19060, HG00329, HG00123, HG00252, NA19661, HG01082, HG00171, HG00180, NA20754, HG01061, NA19676
Known GenesEXT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664743
Frequency
Sample Size1151
Observed Gain0
Observed Loss99
Observed Complex0
Frequencyn/a


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