A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6856248



Internal ID9907421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:91140651..91140945hg38UCSC Ensembl
Outerchr8:92152879..92153173hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737291
Supporting Variants
SamplesSSM087
Known GenesLRRC69
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)essv6856248
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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