A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746118



Internal ID10327088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:81111617..81112744hg38UCSC Ensembl
Outerchr12:81505396..81506523hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381128
hg191128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6900674
SamplesSSM100
Known GenesACSS3
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)esv2746118
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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