A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672155



Internal ID9591574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99894566..99898009hg38UCSC Ensembl
chr12:100288344..100291787hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383444
hg193444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6583741, essv6365225, essv6148039, essv5530703, essv6143534, essv5784602, essv6065969, essv5488662, essv6324240, essv5908725, essv6301104, essv5463667, essv5947921, essv5429980, essv6371478, essv6500213, essv5669848, essv5806275, essv6136614, essv5772682, essv5517329, essv6072737, essv6239509, essv6146802, essv6001549, essv6377433, essv6445996, essv5768136, essv5606779, essv5535096, essv6364538, essv5825682, essv6058703
SamplesNA12249, HG00257, HG01075, HG01055, HG00731, NA20796, HG01098, HG01204, HG00177, NA19355, NA19761, HG00266, NA19428, NA07357, HG01495, HG01136, NA20520, HG00237, NA19676, HG00640, NA20795, NA20753, HG01073, NA20818, HG00116, NA12283, NA19711, HG00120, NA12891, NA20581, NA20537, NA12878, NA19749
Known GenesANKS1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672155
Frequency
Sample Size1151
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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