A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672185



Internal ID9591604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10418817..10432323hg38UCSC Ensembl
Outerchr12:10418446..10432693hg38UCSC Ensembl
Innerchr12:10571416..10584922hg19UCSC Ensembl
Outerchr12:10571045..10585292hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3814248
hg1914248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv263e199
Supporting Variantsessv5533382, essv6496534, essv6394392, essv6366602, essv5398180, essv5705697, essv6426216, essv6334366, essv6327444, essv5657327, essv6015302, essv5561867, essv5657979, essv6574841
SamplesNA18530, NA18627, NA18597, NA18539, NA18544, NA18566, NA18536, NA18593, NA18535, NA18628, NA18615, NA18610, NA18631, NA18612
Known GenesKLRC2, KLRC3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672185
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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