A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731979



Internal ID10315615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:41757774..41757950hg38UCSC Ensembl
Outerchr6:41725512..41725688hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6969384
SamplesSSM028
Known Genes
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)esv2731979
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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