A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6934652



Internal ID9988325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:8865125..8872531hg38UCSC Ensembl
Outerchr9:8865125..8872531hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg387407
hg197407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738188
Supporting Variants
SamplesSSM003
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)essv6934652
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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