A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15730590



Internal ID6593207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68821674..68826084hg38UCSC Ensembl
Innerchr17:68821710..68826048hg38UCSC Ensembl
Outerchr17:68821638..68826120hg38UCSC Ensembl
chr17:66817815..66822225hg19UCSC Ensembl
Innerchr17:66817851..66822189hg19UCSC Ensembl
Outerchr17:66817779..66822261hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg384411
hg194411
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641119
Supporting Variants
SamplesNA20768
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15730590
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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