A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746314



Internal ID10327284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:104076649..104076840hg38UCSC Ensembl
Outerchr12:104470427..104470618hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6908947, essv6687844, essv6823688, essv6819777
SamplesSSM079, SSM014, SSM078, SSM005
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)esv2746314
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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