A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694641



Internal ID15046319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172484643..172485941hg38UCSC Ensembl
Innerchr5:172484941..172485643hg38UCSC Ensembl
Outerchr5:172483643..172486941hg38UCSC Ensembl
chr5:171911647..171912945hg19UCSC Ensembl
Innerchr5:171911945..171912647hg19UCSC Ensembl
Outerchr5:171910647..171913945hg19UCSC Ensembl
chr5:171844252..171845550hg18UCSC Ensembl
Innerchr5:171845252..171844550hg18UCSC Ensembl
Outerchr5:171843252..171846550hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3350281
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694641
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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