A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738624



Internal ID10322260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:79413216..79418522hg38UCSC Ensembl
Outerchr9:82028131..82033437hg19UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg385307
hg195307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6765493, essv6819135, essv6904479, essv6795548, essv6897307
SamplesSSM071, SSM013, SSM078, SSM099, SSM063
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)esv2738624
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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