A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13396626



Internal ID3398442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:9801822..9929627hg38UCSC Ensembl
Innerchr9:9802322..9929127hg38UCSC Ensembl
Outerchr9:9800822..9930627hg38UCSC Ensembl
chr9:9801822..9929627hg19UCSC Ensembl
Innerchr9:9802322..9929127hg19UCSC Ensembl
Outerchr9:9800822..9930627hg19UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38127806
hg19127806
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619528
Supporting Variants
SamplesNA20802
Known GenesPTPRD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13396626
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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