A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13395472



Internal ID5154671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:8696709..8700255hg38UCSC Ensembl
Innerchr9:8696709..8700255hg38UCSC Ensembl
Outerchr9:8696487..8700480hg38UCSC Ensembl
chr9:8696709..8700255hg19UCSC Ensembl
Innerchr9:8696709..8700255hg19UCSC Ensembl
Outerchr9:8696487..8700480hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg383547
hg193547
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619493
Supporting Variants
SamplesNA18582
Known GenesPTPRD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13395472
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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