A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739157



Internal ID9973498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133254796..133255177hg38UCSC Ensembl
Outerchr9:136130183..136130564hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1268e201
Supporting Variantsessv6799793, essv6866619, essv6894294, essv6861882, essv6965103, essv6691252, essv6791427, essv6684747
SamplesSSM036, SSM027, SSM088, SSM089, SSM072, SSM070, SSM034, SSM098
Known GenesABO
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)esv2739157
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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