A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6823688



Internal ID10224801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:104076649..104076776hg38UCSC Ensembl
Outerchr12:104470427..104470554hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746313, esv2746314
Supporting Variants
SamplesSSM079
Known GenesHCFC2
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)essv6823688
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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