A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6926601



Internal ID9689339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:44794906..44795470hg38UCSC Ensembl
Outerchr5:44795008..44795572hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38565
hg19565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730149
Supporting Variants
SamplesSSM019
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)essv6926601
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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