A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661131



Internal ID9580550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75123218..75125824hg38UCSC Ensembl
Outerchr16:75122847..75126194hg38UCSC Ensembl
Innerchr16:75157116..75159722hg19UCSC Ensembl
Outerchr16:75156745..75160092hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6048798, essv5864778, essv5499346, essv6597494, essv6442428, essv6264897, essv6575234, essv6515379, essv5596095, essv6261571, essv5465344, essv5547279, essv6396745, essv6103764, essv6577334, essv6374033, essv5831082, essv6284868, essv6420816, essv5396546, essv6318306, essv6073190, essv6294742, essv5548174, essv6000358, essv6532756, essv5442830, essv6524422, essv6220144, essv6303960, essv5417207, essv5779272, essv6162965, essv6374027, essv6512639, essv6266962, essv6218473, essv5684070, essv6585325, essv6444775, essv6022877, essv6122333, essv5456372, essv5762138, essv5452941, essv6341168, essv5690536, essv6557769, essv6312339, essv5752122, essv5417842, essv6553751, essv5648922, essv6239569, essv5950095, essv5777358, essv6289568, essv5635646, essv6331575, essv5536602, essv6288962, essv6241338, essv5835313, essv6580135, essv5953061, essv5806925
SamplesHG00403, HG00650, HG00542, HG00442, HG00536, HG00608, HG00671, HG00524, HG00699, HG00449, HG00654, HG00589, HG00501, HG00702, HG00689, HG00448, HG00610, HG00537, HG00590, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00419, HG00464, HG00543, HG00443, HG00557, HG00428, HG00653, HG00577, HG00701, HG00657, HG00475, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00651, HG00690, HG00404, HG00531, HG00684, HG00613, HG00525, HG00704, HG00463, HG00476, HG00580, HG00607, HG00662, HG00620, HG00707, HG00614, HG00513, HG00478, HG00421, HG00656, HG00698, HG00581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661131
Frequency
Sample Size1151
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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