A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737138



Internal ID10320774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:69451930..69452074hg38UCSC Ensembl
Outerchr8:70364165..70364309hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6944210, essv6687811, essv6720089
SamplesSSM023, SSM035, SSM044
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)esv2737138
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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