A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694627



Internal ID13639523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159922667..159924265hg38UCSC Ensembl
Innerchr5:159923265..159923667hg38UCSC Ensembl
Outerchr5:159921667..159925265hg38UCSC Ensembl
chr5:159349674..159351272hg19UCSC Ensembl
Innerchr5:159350272..159350674hg19UCSC Ensembl
Outerchr5:159348674..159352272hg19UCSC Ensembl
chr5:159282252..159283850hg18UCSC Ensembl
Innerchr5:159283252..159282850hg18UCSC Ensembl
Outerchr5:159281252..159284850hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3410932
Supporting Variants
SamplesNA12878
Known GenesADRA1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694627
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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