A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617447



Internal ID7004332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:64327555..64346029hg38UCSC Ensembl
chr8:65240112..65258586hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3818475
hg1918475
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1402e214
Supporting Variantsessv13213315, essv13213325, essv13213338, essv13213331, essv13213320, essv13213304, essv13213307, essv13213344, essv13213318, essv13213302, essv13213291, essv13213351, essv13213319, essv13213295, essv13213323, essv13213290, essv13213333, essv13213316, essv13213301, essv13213314, essv13213327, essv13213322, essv13213292, essv13213343, essv13213332, essv13213328, essv13213312, essv13213340, essv13213350, essv13213353, essv13213346, essv13213341, essv13213324, essv13213288, essv13213296, essv13213329, essv13213326, essv13213308, essv13213317, essv13213289, essv13213313, essv13213352, essv13213349, essv13213299, essv13213285, essv13213336, essv13213345, essv13213294, essv13213321, essv13213293, essv13213330, essv13213284, essv13213348, essv13213342, essv13213310, essv13213281, essv13213303, essv13213305, essv13213354, essv13213298, essv13213287, essv13213339, essv13213334, essv13213283, essv13213335, essv13213347, essv13213282, essv13213309, essv13213337, essv13213286, essv13213311, essv13213297, essv13213300, essv13213306
SamplesNA19028, NA19914, NA19332, HG02433, NA18917, HG02012, NA19350, NA18486, HG02323, HG03280, HG03172, HG02769, HG03478, NA19446, HG02485, HG02840, NA18498, NA19923, HG02573, NA19235, NA19317, NA19026, HG03380, HG02946, NA19456, HG02715, NA19921, HG03048, HG02479, HG02442, NA19908, HG03132, HG02582, NA19455, NA19982, NA18871, HG03563, HG01161, HG03382, NA18856, HG02884, HG02881, HG03391, NA19318, NA19095, HG03064, HG02255, NA19375, HG03028, NA19440, NA19108, NA18517, NA19019, HG01915, HG03458, HG01396, NA19334, HG03469, NA19324, NA19310, HG01108, NA19376, HG01912, HG03066, HG02646, HG03279, HG02676, HG02013, HG02052, HG02051, HG02805, HG02808, HG03129, HG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617447
Frequency
Sample Size2504
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


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