A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6881902



Internal ID9930509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:91140655..91140933hg38UCSC Ensembl
Outerchr8:92152883..92153161hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737291
Supporting Variants
SamplesSSM094
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)essv6881902
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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