A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13395492



Internal ID5673062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:8864920..8872372hg38UCSC Ensembl
chr9:8864920..8872372hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg387453
hg197453
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619498
Supporting Variants
SamplesNA19078
Known GenesPTPRD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13395492
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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