A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739081



Internal ID10322717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:129302762..129305172hg38UCSC Ensembl
Outerchr9:132065041..132067451hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg382411
hg192411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803205, essv6935607, essv6856544, essv6716345, essv6815097, essv6681198, essv6890918, essv6944446, essv6752260
SamplesSSM087, SSM097, SSM073, SSM057, SSM023, SSM003, SSM033, SSM077, SSM043
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)esv2739081
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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