A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694727



Internal ID15014359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2531038..2532636hg38UCSC Ensembl
Innerchr5:2531636..2532038hg38UCSC Ensembl
Outerchr5:2530038..2533636hg38UCSC Ensembl
chr5:2531152..2532750hg19UCSC Ensembl
Innerchr5:2531750..2532152hg19UCSC Ensembl
Outerchr5:2530152..2533750hg19UCSC Ensembl
chr5:2584152..2585750hg18UCSC Ensembl
Innerchr5:2585152..2584750hg18UCSC Ensembl
Outerchr5:2583152..2586750hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3441942
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694727
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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