A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741979



Internal ID9976266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:81468540..81468735hg38UCSC Ensembl
Outerchr6:82178257..82178452hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6808472
SamplesSSM075
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)esv2741979
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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