A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15733834



Internal ID408904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:70831289..70856959hg38UCSC Ensembl
Innerchr17:70831289..70856959hg38UCSC Ensembl
Outerchr17:70830789..70857459hg38UCSC Ensembl
chr17:68827430..68853100hg19UCSC Ensembl
Innerchr17:68827430..68853100hg19UCSC Ensembl
Outerchr17:68826930..68853600hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3825671
hg1925671
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641159
Supporting Variants
SamplesHG00121
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15733834
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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