A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6683332



Internal ID9993477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61122805..61123327hg38UCSC Ensembl
Outerchr8:62035364..62035886hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737078
Supporting Variants
SamplesSSM005
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)essv6683332
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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