A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690844



Internal ID15027216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44590158..44591256hg38UCSC Ensembl
Innerchr17:44590256..44591158hg38UCSC Ensembl
Outerchr17:44589158..44592256hg38UCSC Ensembl
chr17:42667526..42668624hg19UCSC Ensembl
Innerchr17:42667624..42668526hg19UCSC Ensembl
Outerchr17:42666526..42669624hg19UCSC Ensembl
chr17:40023052..40024150hg18UCSC Ensembl
Innerchr17:40024052..40023150hg18UCSC Ensembl
Outerchr17:40022052..40025150hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3401873
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690844
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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