A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6967540



Internal ID9645039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:69329903..69330062hg38UCSC Ensembl
Outerchr9:71944819..71944978hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738536, esv2738537
Supporting Variants
SamplesSSM004
Known GenesFAM189A2
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)essv6967540
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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