A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739181



Internal ID9973522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133791746..133792183hg38UCSC Ensembl
Outerchr9:136656868..136657305hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6927578, essv6672495, essv6870447, essv6677425, essv6939916, essv6720305, essv6923897, essv6894298, essv6970341
SamplesSSM028, SSM090, SSM018, SSM019, SSM032, SSM031, SSM044, SSM022, SSM098
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)esv2739181
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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