A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6691678



Internal ID10104862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128663761..128664021hg38UCSC Ensembl
Outerchr12:129148306..129148566hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746658, esv2746657
Supporting Variants
SamplesSSM036
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)essv6691678
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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