A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671232



Internal ID9937337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:103445349..103453239hg38UCSC Ensembl
Outerchr12:103445312..103453289hg38UCSC Ensembl
Innerchr12:103839127..103847017hg19UCSC Ensembl
Outerchr12:103839090..103847067hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg387978
hg197978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv309e199
Supporting Variantsessv5947447, essv6409768, essv5485085, essv6471394, essv6082685
SamplesNA18498, NA19384, NA19451, NA19114, NA18505
Known GenesC12orf42
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671232
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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