A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732847



Internal ID10316483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:148387550..148387809hg38UCSC Ensembl
Outerchr6:148708686..148708945hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6782315, essv6694270
SamplesSSM068, SSM037
Known GenesSASH1
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)esv2732847
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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