A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6894832



Internal ID9666087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:69189588..69190051hg38UCSC Ensembl
Outerchr9:71804504..71804967hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738534
Supporting Variants
SamplesSSM012
Known GenesTJP2
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)essv6894832
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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