A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668809



Internal ID9588228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:757309..767244hg38UCSC Ensembl
chr12:866475..876410hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg389936
hg199936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv254e199
Supporting Variantsessv5906854, essv5687193, essv5806143, essv6392099, essv6058248, essv6167471, essv6191466, essv5875679, essv6174321, essv6356944, essv5646868, essv5460295, essv5893671, essv5857284, essv5402230, essv5617705, essv6477791, essv6547463, essv5803069, essv5510734, essv6123799, essv5621021, essv5935860, essv5783368, essv6501781, essv5794065, essv5948895, essv6483313, essv5467517, essv5876154, essv6194426, essv5661317, essv5750657, essv5838113
SamplesHG00189, HG00318, HG00737, HG00173, HG00185, HG00281, HG01069, HG01080, HG01170, HG00309, HG00326, HG00188, HG00328, HG00368, HG00740, HG00273, HG00373, HG01197, HG01182, HG01075, HG00336, HG00353, HG00375, HG00357, HG00278, HG00319, HG00339, HG00342, HG00343, HG00274, HG00345, HG00554, HG01191, HG00180
Known GenesWNK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668809
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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