A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737129



Internal ID10320765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:68797848..68833672hg38UCSC Ensembl
Outerchr8:69710083..69745907hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3835825
hg1935825
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6800966, essv6861627
SamplesSSM009, SSM088
Known GenesC8orf34
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)esv2737129
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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