A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745987



Internal ID10326957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:64366476..64366744hg38UCSC Ensembl
Outerchr12:64760256..64760524hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6724530
SamplesSSM045
Known GenesC12orf56
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)esv2745987
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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