A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745917



Internal ID9980201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:54459689..54460014hg38UCSC Ensembl
Outerchr12:54853473..54853798hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6800238, essv6838644, essv6882336, essv6888020
SamplesSSM083, SSM096, SSM094, SSM072
Known GenesGTSF1
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)esv2745917
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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