A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3382602



Internal ID15229573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4946132..4946930hg38UCSC Ensembl
Innerchr1:4946131..4946931hg38UCSC Ensembl
Outerchr1:4945132..4947930hg38UCSC Ensembl
chr1:5006192..5006990hg19UCSC Ensembl
Innerchr1:5006191..5006991hg19UCSC Ensembl
Outerchr1:5005192..5007990hg19UCSC Ensembl
chr1:4906052..4906850hg18UCSC Ensembl
Innerchr1:4906851..4906051hg18UCSC Ensembl
Outerchr1:4905052..4907850hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692354
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3382602
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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