A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6676414



Internal ID10093744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:163008387..163008675hg38UCSC Ensembl
Outerchr5:162435393..162435681hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730998
Supporting Variants
SamplesSSM032
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)essv6676414
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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