A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669713



Internal ID9589132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23836982..23838788hg38UCSC Ensembl
Outerchr12:23836611..23839158hg38UCSC Ensembl
Innerchr12:23989916..23991722hg19UCSC Ensembl
Outerchr12:23989545..23992092hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg382548
hg192548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6158402, essv6289423, essv5743978, essv5449347, essv6339683, essv6342169, essv5916793, essv6579684, essv6479048, essv5829825, essv5820705, essv5484290, essv6263023, essv6582745, essv5728937, essv6261338, essv6295872, essv5472084, essv5631161, essv5842753, essv6031558, essv5738263, essv6378649, essv5873174, essv6508679, essv6187054, essv6438135, essv6354293, essv5614766, essv5967555, essv5795869, essv6052947, essv5836496, essv6188257, essv5427154, essv5410117, essv5402898, essv5508742, essv5890303, essv6343354, essv5642958, essv6142683, essv6039116, essv6397217, essv6345688, essv5596601, essv6454453, essv6060940, essv6370427, essv5474355, essv5821240, essv6131552, essv5732058, essv5510942, essv5988931, essv6052038, essv5741021, essv5530815, essv6257372, essv5469946, essv5504446, essv5481255, essv6464984, essv6429183, essv6578793, essv6523403, essv6040413, essv5719376, essv6259221, essv6463301, essv6336864, essv6070520, essv5495014, essv6173423, essv6134121, essv5871312, essv5701476, essv6258034, essv6096530, essv5485957, essv5660983, essv5915351, essv6131737, essv6270663, essv5792139, essv6207673, essv5615093, essv5825921, essv5863219, essv6187247
SamplesHG00593, HG00626, HG00403, HG00650, HG00542, HG00442, HG00592, HG00536, HG00608, HG00671, HG00559, HG00524, HG00699, HG00449, HG00654, HG00693, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00634, HG00610, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00427, HG00530, HG00419, HG00464, HG00543, HG00560, HG00629, HG00443, HG00596, HG00557, HG00428, HG00653, HG00577, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00635, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00463, HG00611, HG00476, HG00625, HG00565, HG00580, HG00473, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, HG00421, HG00656, HG00698, HG00595, HG00472, HG00628, HG00437, HG00581
Known GenesSOX5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669713
Frequency
Sample Size1151
Observed Gain0
Observed Loss90
Observed Complex0
Frequencyn/a


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