A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694691



Internal ID15046709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181452045..181457143hg38UCSC Ensembl
Innerchr5:181453045..181456143hg38UCSC Ensembl
Outerchr5:181451045..181458143hg38UCSC Ensembl
chr5:180879046..180884144hg19UCSC Ensembl
Innerchr5:180880046..180883144hg19UCSC Ensembl
Outerchr5:180878046..180885144hg19UCSC Ensembl
chr5:180811652..180816750hg18UCSC Ensembl
Innerchr5:180812652..180815750hg18UCSC Ensembl
Outerchr5:180810652..180817750hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385099
hg195099
hg185099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3333791
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694691
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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