A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732574



Internal ID3283070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:111128724..111129196hg38UCSC Ensembl
Outerchr6:111449927..111450399hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38473
hg19473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6761653
SamplesSSM008
Known GenesSLC16A10
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)esv2732574
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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