A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738234



Internal ID10321870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:16332063..16332876hg38UCSC Ensembl
Outerchr9:16332061..16332874hg19UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg38814
hg19814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6805999, essv6755137, essv6915691, essv6935550, essv6964933, essv6757890
SamplesSSM059, SSM027, SSM074, SSM058, SSM021, SSM016
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)esv2738234
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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