A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739153



Internal ID9973494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133190291..133190556hg38UCSC Ensembl
Outerchr9:136065678..136065943hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6976357, essv6866618, essv6779053, essv6834536, essv6850529, essv6965102
SamplesSSM027, SSM029, SSM089, SSM067, SSM086, SSM082
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)esv2739153
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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