A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694831



Internal ID15015021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:10001..11850hg38UCSC Ensembl
Innerchr5:10850..10952hg38UCSC Ensembl
chr5:10001..11850hg19UCSC Ensembl
Innerchr5:10850..10952hg19UCSC Ensembl
chr5:62952..64850hg18UCSC Ensembl
Innerchr5:63952..63850hg18UCSC Ensembl
Outerchr5:61952..65850hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381850
hg191850
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3445602
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694831
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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