A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739360



Internal ID10322996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136403343..136403511hg38UCSC Ensembl
Outerchr9:139297795..139297963hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6811930, essv6866644, essv6861906
SamplesSSM088, SSM089, SSM076
Known GenesSDCCAG3
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)esv2739360
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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