A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15701745



Internal ID5081075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54242241..54250308hg38UCSC Ensembl
Innerchr17:54242241..54250308hg38UCSC Ensembl
Outerchr17:54242038..54250501hg38UCSC Ensembl
chr17:52319602..52327669hg19UCSC Ensembl
Innerchr17:52319602..52327669hg19UCSC Ensembl
Outerchr17:52319399..52327862hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg388068
hg198068
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640818
Supporting Variants
SamplesNA18544
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15701745
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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