A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15679048



Internal ID1588692
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640598
Supporting Variants
SamplesHG01468
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15679048
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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