A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15605439



Internal ID5607255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8193720..8214825hg38UCSC Ensembl
Innerchr17:8194220..8214325hg38UCSC Ensembl
Outerchr17:8192720..8215825hg38UCSC Ensembl
chr17:8097038..8118143hg19UCSC Ensembl
Innerchr17:8097538..8117643hg19UCSC Ensembl
Outerchr17:8096038..8119143hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3821106
hg1921106
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639878
Supporting Variants
SamplesHG04225
Known GenesAURKB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15605439
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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