A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658850



Internal ID9924955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55761204..55788410hg38UCSC Ensembl
Outerchr16:55760833..55788780hg38UCSC Ensembl
Innerchr16:55795116..55822322hg19UCSC Ensembl
Outerchr16:55794745..55822692hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3827948
hg1927948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv496e199
Supporting Variantsessv5680846, essv6064543, essv5752061, essv5769667, essv5754076, essv5796044, essv6032580, essv5405027, essv5737739, essv6415602, essv5921111, essv5936979, essv5424648, essv5452242, essv5637541, essv5690995, essv5850846, essv6140235, essv6009272, essv5966125, essv6303924, essv6506379, essv6115302, essv6142283, essv5965400, essv6284899, essv5660693, essv6161144, essv5649942, essv5687685, essv6431306, essv6316772, essv5683798, essv5425499, essv6227509, essv5800598, essv5412305, essv6301756, essv6520908, essv6159556, essv6240741, essv6170230, essv6392895, essv6142969, essv6110995, essv6138718, essv5706735, essv6494065, essv6304203, essv5691655, essv5631779, essv6345983, essv6439410, essv6016503, essv5687089, essv6267128, essv6466380, essv6182882, essv6128695
SamplesHG00403, HG00650, HG00442, HG00592, HG00536, HG00559, HG00524, HG00449, HG00654, HG00693, HG00663, HG00589, HG00501, HG00702, HG00610, HG00537, HG00512, HG00683, HG00534, HG00422, HG00705, HG00464, HG00543, HG00560, HG00629, HG00443, HG00596, HG00428, HG00653, HG00577, HG00657, HG00475, HG00436, HG00500, HG00708, HG00651, HG00404, HG00531, HG00479, HG00684, HG00525, HG00704, HG00463, HG00611, HG00476, HG00625, HG00565, HG00580, HG00473, HG00620, HG00707, HG00614, HG00513, HG00478, HG00656, HG00595, HG00472, HG00437, HG00593
Known GenesCES1P1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658850
Frequency
Sample Size1151
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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