A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6698413



Internal ID10112922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:8865074..8872634hg38UCSC Ensembl
Outerchr9:8865074..8872634hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg387561
hg197561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738188
Supporting Variants
SamplesSSM038
Known GenesPTPRD
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)essv6698413
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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