A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6940706



Internal ID9982856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:148910214..148911413hg38UCSC Ensembl
Outerchr5:148289777..148290976hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730899
Supporting Variants
SamplesSSM001
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)essv6940706
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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