A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34558



Internal ID12990595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:10512307..10581500hg38UCSC Ensembl
Innerchr9:10512307..10581500hg19UCSC Ensembl
Innerchr9:10502307..10571500hg18UCSC Ensembl
Innerchr9:10502307..10571500hg17UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg3869194
hg1969194
hg1869194
hg1769194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988064, essv6978879
SamplesNA12752
Known GenesPTPRD
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34558
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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