A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746106



Internal ID10327076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:78803771..78804022hg38UCSC Ensembl
Outerchr12:79197551..79197802hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv192e201
Supporting Variantsessv6959326, essv6827742, essv6867214, essv6827744, essv6787797, essv6862439, essv6851250
SamplesSSM088, SSM069, SSM026, SSM089, SSM086, SSM080
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2746106
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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