A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738159



Internal ID10321795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:5321848..5398141hg38UCSC Ensembl
Outerchr9:5321848..5398141hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3876294
hg1976294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6712539, essv6778941, essv6876277, essv6890827
SamplesSSM097, SSM042, SSM092, SSM067
Known GenesPLGRKT, RLN1
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)esv2738159
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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