A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732334



Internal ID10315970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:79177863..79181782hg38UCSC Ensembl
Outerchr6:79887580..79891499hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg383920
hg193920
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6754593, essv6694205
SamplesSSM058, SSM037
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)esv2732334
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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