A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745921



Internal ID9980205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:54846404..54847152hg38UCSC Ensembl
Outerchr12:55240188..55240936hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38749
hg19749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772072, essv6685107, essv6851216
SamplesSSM065, SSM086, SSM034
Known Genes
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)esv2745921
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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