A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739193



Internal ID9973534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133952911..133953033hg38UCSC Ensembl
Outerchr9:136818033..136818155hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6720308
SamplesSSM044
Known GenesVAV2
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)esv2739193
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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