A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659892



Internal ID9925997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:114938019..114949575hg38UCSC Ensembl
Outerchr3:114937398..114949945hg38UCSC Ensembl
Innerchr3:114656866..114668422hg19UCSC Ensembl
Outerchr3:114656245..114668792hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3812548
hg1912548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv881e199
Supporting Variantsessv6086013, essv6194135, essv6222942, essv6408474, essv6255081, essv6431253, essv6068682, essv5970246, essv5856505, essv5531911, essv6289902, essv6325008, essv5569865, essv6500854, essv5469247, essv5788749, essv6326639, essv6544569, essv6182697, essv5778442, essv6511638, essv5554564, essv6049474, essv5777997, essv6227271, essv5780199, essv5452731, essv6348086, essv5527789, essv6523841, essv6078086, essv6448662, essv5476583, essv5398858, essv6380584, essv6483124, essv5545861, essv5963992, essv5869912, essv6522046, essv5531285, essv5670505, essv5802814, essv5484958, essv6263148, essv6203474, essv5823136, essv6055099, essv6567992, essv6074542, essv6045813, essv5976436, essv6341578, essv6482210, essv6314856, essv6578621, essv6548008, essv6030616, essv6480951, essv6555972, essv5615686, essv6213929, essv6323717, essv6157031, essv6063972, essv5465750, essv5446619, essv5500663, essv5983310, essv5561273, essv5632494, essv5897898, essv5612536, essv5813064, essv5735822
SamplesNA19703, NA19466, NA19399, NA19914, NA19332, NA19350, NA19359, NA19355, NA19819, NA19393, NA20332, NA20346, NA19920, NA19446, NA19396, NA19373, NA19379, NA19319, NA19315, NA19916, NA19457, NA19313, NA20287, NA20340, NA19372, NA19371, NA19385, NA19317, NA19901, NA20342, NA19456, NA20127, NA19921, NA19451, NA19908, NA19437, NA19707, NA19462, NA19347, NA19455, NA19982, NA20344, NA19461, NA20299, NA19449, NA19338, NA19436, NA19401, NA19390, NA19834, NA20276, NA19712, NA19434, NA19444, NA19331, NA19380, NA19835, NA19334, NA19470, NA19428, NA19324, NA19311, NA19467, NA19360, NA19818, NA19398, NA20348, NA19472, NA19713, NA19474, NA19900, NA19430, NA19316, NA19312, NA19463
Known GenesZBTB20
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659892
Frequency
Sample Size1151
Observed Gain0
Observed Loss75
Observed Complex0
Frequencyn/a


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