A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745988



Internal ID10326958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:64445555..64446392hg38UCSC Ensembl
Outerchr12:64839335..64840172hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38838
hg19838
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6763422, essv6897675
SamplesSSM062, SSM099
Known GenesXPOT
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)esv2745988
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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