A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6848797



Internal ID10247399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:90564632..90564926hg38UCSC Ensembl
Outerchr5:89860449..89860743hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730453
Supporting Variants
SamplesSSM086
Known GenesGPR98
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)essv6848797
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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