A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6672459



Internal ID10090946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:115095450..115095648hg38UCSC Ensembl
Outerchr9:117857729..117857927hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738966, esv2738967
Supporting Variants
SamplesSSM031
Known GenesTNC
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)essv6672459
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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