A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676142



Internal ID9942247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:56117998..56119804hg38UCSC Ensembl
Outerchr14:56117627..56120174hg38UCSC Ensembl
Innerchr14:56584716..56586522hg19UCSC Ensembl
Outerchr14:56584345..56586892hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg382548
hg192548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6119898, essv5910395, essv5567303, essv5427972, essv6262181, essv6582962, essv5961817, essv5506440, essv5992466, essv5572369, essv6412907, essv6592306, essv6345516, essv5474180, essv6292092, essv5780109, essv6327147, essv6121954, essv6334886, essv6592006, essv5574578, essv5607913, essv5520243, essv5462104, essv5581326, essv6353872, essv6322685, essv5787738, essv6127831, essv6068890, essv5992584, essv6581284, essv5634561, essv5823425, essv5888743, essv6433919, essv5705137, essv5635513, essv5858443, essv5403972, essv6041779, essv6323172, essv6485613, essv5843155, essv5449117, essv6107339, essv6062737, essv6174272, essv6475463, essv5957780, essv6454636, essv6253796, essv5620609, essv6553278, essv5698967, essv6065387, essv5632185, essv6177433, essv5759239, essv5527902, essv5971660, essv5966652, essv5835809, essv6445064, essv6563000, essv5574602, essv5480600, essv6030101, essv6001032, essv6435521, essv5703769, essv5583199, essv5689714, essv6233950, essv5551347, essv6005232, essv5439504, essv5486054, essv5709687, essv5770305
SamplesHG00626, HG00650, HG00542, HG00442, HG00536, HG00608, HG00671, HG00524, HG00699, HG00449, HG00654, HG00693, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00634, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00419, HG00464, HG00543, HG00560, HG00629, HG00443, HG00596, HG00557, HG00428, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00708, HG00692, HG00635, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, HG00525, HG00704, HG00463, HG00611, HG00476, HG00625, HG00580, HG00473, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00478, HG00421, HG00656, HG00698, HG00595, HG00472, HG00628, HG00581, HG00593
Known GenesPELI2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676142
Frequency
Sample Size1151
Observed Gain0
Observed Loss80
Observed Complex0
Frequencyn/a


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