A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746362



Internal ID9980646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:112232529..112234106hg38UCSC Ensembl
Outerchr12:112670333..112671910hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg381578
hg191578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6763447, essv6977315, essv6711532, essv6737950
SamplesSSM006, SSM050, SSM062, SSM029
Known GenesHECTD4
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)esv2746362
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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