A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739152



Internal ID9973493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133189997..133191111hg38UCSC Ensembl
Outerchr9:136065384..136066498hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg381115
hg191115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6677420, essv6743737, essv6976357, essv6737605, essv6802610, essv6746531, essv6866618, essv6757953, essv6819204, essv6708654, essv6779053, essv6834536, essv6752268, essv6768298, essv6856556, essv6850529, essv6965102
SamplesSSM059, SSM008, SSM027, SSM087, SSM009, SSM050, SSM057, SSM029, SSM089, SSM032, SSM067, SSM086, SSM006, SSM082, SSM078, SSM053, SSM055
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)esv2739152
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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