A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3372786



Internal ID15219762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2454038..2455136hg38UCSC Ensembl
Innerchr5:2454136..2455038hg38UCSC Ensembl
Outerchr5:2453038..2456136hg38UCSC Ensembl
chr5:2454152..2455250hg19UCSC Ensembl
Innerchr5:2454250..2455152hg19UCSC Ensembl
Outerchr5:2453152..2456250hg19UCSC Ensembl
chr5:2507152..2508250hg18UCSC Ensembl
Innerchr5:2508152..2507250hg18UCSC Ensembl
Outerchr5:2506152..2509250hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3204e59
Supporting Variantsessv8694723
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3372786
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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