A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15695686



Internal ID6151946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51324946..51329120hg38UCSC Ensembl
Innerchr17:51324946..51329120hg38UCSC Ensembl
Outerchr17:51324849..51329225hg38UCSC Ensembl
chr17:49402307..49406481hg19UCSC Ensembl
Innerchr17:49402307..49406481hg19UCSC Ensembl
Outerchr17:49402210..49406586hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg384175
hg194175
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640762
Supporting Variants
SamplesNA19684
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15695686
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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