A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15730493



Internal ID5674144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68315880..68319484hg38UCSC Ensembl
Innerchr17:68315880..68319484hg38UCSC Ensembl
Outerchr17:68315655..68319660hg38UCSC Ensembl
chr17:66312021..66315625hg19UCSC Ensembl
Innerchr17:66312021..66315625hg19UCSC Ensembl
Outerchr17:66311796..66315801hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg383605
hg193605
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641110
Supporting Variants
SamplesNA19078
Known GenesARSG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15730493
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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