A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15716788



Internal ID5449844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62131682..62135477hg38UCSC Ensembl
Innerchr17:62131735..62135424hg38UCSC Ensembl
Outerchr17:62131629..62135530hg38UCSC Ensembl
chr17:60209043..60212838hg19UCSC Ensembl
Innerchr17:60209096..60212785hg19UCSC Ensembl
Outerchr17:60208990..60212891hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg383796
hg193796
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640962
Supporting Variants
SamplesNA18965
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15716788
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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