A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6915609



Internal ID10026624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42332800..42336885hg38UCSC Ensembl
Outerchr8:42190318..42194403hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg384086
hg194086
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736936
Supporting Variants
SamplesSSM016
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)essv6915609
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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