A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739164



Internal ID9973505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133511476..133511950hg38UCSC Ensembl
Outerchr9:136376598..136377072hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672489, essv6965104, essv6958538, essv6803211, essv6856558
SamplesSSM027, SSM087, SSM073, SSM026, SSM031
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)esv2739164
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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