A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737137



Internal ID10320773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:69451668..69452323hg38UCSC Ensembl
Outerchr8:70363903..70364558hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38656
hg19656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6830642, essv6681024, essv6944210, essv6746391, essv6800988, essv6970107, essv6749232, essv6687811, essv6720089, essv6771457
SamplesSSM065, SSM009, SSM023, SSM028, SSM035, SSM044, SSM033, SSM010, SSM055, SSM056
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)esv2737137
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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