A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15605437



Internal ID6383115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7979463..7980830hg38UCSC Ensembl
Innerchr17:7979463..7980830hg38UCSC Ensembl
Outerchr17:7979261..7980963hg38UCSC Ensembl
chr17:7882781..7884148hg19UCSC Ensembl
Innerchr17:7882781..7884148hg19UCSC Ensembl
Outerchr17:7882579..7884281hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381368
hg191368
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639876
Supporting Variants
SamplesNA20321
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15605437
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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