A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731634



Internal ID10315270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:18154960..18155367hg38UCSC Ensembl
Outerchr6:18155191..18155598hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6723150, essv6922972
SamplesSSM045, SSM018
Known GenesTPMT
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)esv2731634
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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