A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690832



Internal ID14713339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42131208..42132606hg38UCSC Ensembl
Innerchr17:42131606..42132208hg38UCSC Ensembl
Outerchr17:42130208..42133606hg38UCSC Ensembl
chr17:40283226..40284624hg19UCSC Ensembl
Innerchr17:40283624..40284226hg19UCSC Ensembl
Outerchr17:40282226..40285624hg19UCSC Ensembl
chr17:37536752..37538150hg18UCSC Ensembl
Innerchr17:37537752..37537150hg18UCSC Ensembl
Outerchr17:37535752..37539150hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3410902
Supporting Variants
SamplesNA19239
Known GenesRAB5C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690832
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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