A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13412184



Internal ID3414000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:17478216..17483133hg38UCSC Ensembl
Innerchr9:17478230..17483119hg38UCSC Ensembl
Outerchr9:17478202..17483147hg38UCSC Ensembl
chr9:17478214..17483131hg19UCSC Ensembl
Innerchr9:17478228..17483117hg19UCSC Ensembl
Outerchr9:17478200..17483145hg19UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg384918
hg194918
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619843
Supporting Variants
SamplesHG03259
Known GenesCNTLN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13412184
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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