A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6683799



Internal ID9753738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:44794901..44795475hg38UCSC Ensembl
Outerchr5:44795003..44795577hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38575
hg19575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730149
Supporting Variants
SamplesSSM034
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)essv6683799
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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