A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739216



Internal ID9973557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134469884..134470604hg38UCSC Ensembl
Outerchr9:137361730..137362450hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38721
hg19721
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1271e201
Supporting Variantsessv6944462, essv6819213, essv6783116, essv6866629, essv6887695, essv6939921
SamplesSSM023, SSM096, SSM089, SSM068, SSM078, SSM022
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)esv2739216
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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