A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640598



Internal ID7027373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42066838..42069783hg38UCSC Ensembl
Innerchr17:42066838..42069783hg38UCSC Ensembl
Outerchr17:42066622..42070048hg38UCSC Ensembl
chr17:40218856..40221801hg19UCSC Ensembl
Innerchr17:40218856..40221801hg19UCSC Ensembl
Outerchr17:40218640..40222066hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg382946
hg192946
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15679047, essv15679048
SamplesHG01465, HG01468
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640598
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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