A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639892



Internal ID6679982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8800713..8805464hg38UCSC Ensembl
Innerchr17:8800713..8805464hg38UCSC Ensembl
Outerchr17:8800213..8805964hg38UCSC Ensembl
chr17:8704031..8708782hg19UCSC Ensembl
Innerchr17:8704031..8708782hg19UCSC Ensembl
Outerchr17:8703531..8709282hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg384752
hg194752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15609341
SamplesHG00259
Known GenesPIK3R6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639892
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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