A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15730599



Internal ID4925401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69114332..69122935hg38UCSC Ensembl
Innerchr17:69114382..69122885hg38UCSC Ensembl
Outerchr17:69114282..69122985hg38UCSC Ensembl
chr17:67110473..67119076hg19UCSC Ensembl
Innerchr17:67110523..67119026hg19UCSC Ensembl
Outerchr17:67110423..67119126hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg388604
hg198604
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641121
Supporting Variants
SamplesNA12762
Known GenesABCA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15730599
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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