A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13395493



Internal ID1016732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:8864991..8872662hg38UCSC Ensembl
Innerchr9:8864991..8872662hg38UCSC Ensembl
Outerchr9:8864779..8872832hg38UCSC Ensembl
chr9:8864991..8872662hg19UCSC Ensembl
Innerchr9:8864991..8872662hg19UCSC Ensembl
Outerchr9:8864779..8872832hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg387672
hg197672
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619499
Supporting Variants
SamplesHG00637
Known GenesPTPRD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13395493
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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