A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15758108



Internal ID5759924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80277452..80297499hg38UCSC Ensembl
Innerchr17:80277952..80296999hg38UCSC Ensembl
Outerchr17:80276452..80298499hg38UCSC Ensembl
chr17:78251251..78271299hg19UCSC Ensembl
Innerchr17:78251751..78270799hg19UCSC Ensembl
Outerchr17:78250251..78272299hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3820048
hg1920049
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641371
Supporting Variants
SamplesHG00266
Known GenesRNF213
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15758108
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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