A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6850507



Internal ID10248938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:111887337..111887438hg38UCSC Ensembl
Outerchr9:114649617..114649718hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738943, esv2738941, esv2738942
Supporting Variants
SamplesSSM086
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)essv6850507
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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