A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6894041



Internal ID9941434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1603498..1603744hg38UCSC Ensembl
Outerchr8:1551664..1551910hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736283, esv2736284
Supporting Variants
SamplesSSM098
Known GenesDLGAP2, LOC100507435
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)essv6894041
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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