A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739380



Internal ID9973721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136656625..136657890hg38UCSC Ensembl
Outerchr9:139551077..139552342hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381266
hg191266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6771681, essv6856589, essv6802754, essv6668019, essv6866647, essv6708743, essv6735476, essv6915805, essv6861909, essv6734929, essv6765539
SamplesSSM065, SSM087, SSM009, SSM088, SSM089, SSM006, SSM007, SSM016, SSM049, SSM030, SSM063
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)esv2739380
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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