A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746313



Internal ID10327283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:104076378..104077095hg38UCSC Ensembl
Outerchr12:104470156..104470873hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38718
hg19718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977302, essv6755619, essv6765815, essv6908947, essv6687844, essv6939573, essv6873732, essv6876714, essv6823688, essv6819777, essv6761030, essv6746901
SamplesSSM079, SSM058, SSM092, SSM061, SSM029, SSM003, SSM014, SSM078, SSM005, SSM091, SSM055, SSM063
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)esv2746313
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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