A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746657



Internal ID10327627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128663680..128664337hg38UCSC Ensembl
Outerchr12:129148225..129148882hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38658
hg19658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv208e201
Supporting Variantsessv6685159, essv6763458, essv6673284, essv6900704, essv6783640, essv6851335, essv6728411, essv6749749, essv6827797, essv6706285, essv6691678, essv6940426, essv6931937, essv6945048, essv6724578, essv6806447, essv6691679
SamplesSSM100, SSM036, SSM045, SSM046, SSM074, SSM023, SSM062, SSM031, SSM086, SSM068, SSM040, SSM020, SSM080, SSM022, SSM034, SSM056
Known GenesTMEM132C
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)esv2746657
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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