A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6977334



Internal ID9734183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121792040..121792137hg38UCSC Ensembl
Outerchr12:122229946..122230043hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746494, esv2746493
Supporting Variants
SamplesSSM029
Known GenesRHOF
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)essv6977334
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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