A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694690



Internal ID15085044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181452045..181455043hg38UCSC Ensembl
Innerchr5:181453045..181454043hg38UCSC Ensembl
Outerchr5:181451045..181456043hg38UCSC Ensembl
chr5:180879046..180882044hg19UCSC Ensembl
Innerchr5:180880046..180881044hg19UCSC Ensembl
Outerchr5:180878046..180883044hg19UCSC Ensembl
chr5:180811652..180814650hg18UCSC Ensembl
Innerchr5:180812652..180813650hg18UCSC Ensembl
Outerchr5:180810652..180815650hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382999
hg192999
hg182999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3417229
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694690
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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