A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659796



Internal ID9925901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:103446117..103453925hg38UCSC Ensembl
Outerchr12:103445960..103454078hg38UCSC Ensembl
Innerchr12:103839895..103847703hg19UCSC Ensembl
Outerchr12:103839738..103847856hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg388119
hg198119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv309e199
Supporting Variantsessv6167607, essv5613548, essv6426164
SamplesNA18606, NA19384, NA19114
Known GenesC12orf42
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659796
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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