A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732578



Internal ID3283074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:111568459..111568615hg38UCSC Ensembl
Outerchr6:111889662..111889818hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6822516
SamplesSSM079
Known GenesTRAF3IP2, TRAF3IP2-AS1
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)esv2732578
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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