A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666131



Internal ID9585550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32177717..32182789hg38UCSC Ensembl
Outerchr12:32177560..32182942hg38UCSC Ensembl
Innerchr12:32330651..32335723hg19UCSC Ensembl
Outerchr12:32330494..32335876hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg385383
hg195383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6197582, essv6586981, essv6228779, essv5601055, essv6097934, essv5667589
SamplesHG00261, HG00334, HG00337, NA11995, HG00233, NA12717
Known GenesBICD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666131
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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