A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6687811



Internal ID10101714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:69451938..69452074hg38UCSC Ensembl
Outerchr8:70364173..70364309hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737137, esv2737138
Supporting Variants
SamplesSSM035
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)essv6687811
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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