A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444717



Internal ID15291669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:594109..599407hg38UCSC Ensembl
Innerchr1:595109..598407hg38UCSC Ensembl
Outerchr1:593109..600407hg38UCSC Ensembl
chr1:529489..534787hg19UCSC Ensembl
Innerchr1:530489..533787hg19UCSC Ensembl
Outerchr1:528489..535787hg19UCSC Ensembl
chr1:519352..524650hg18UCSC Ensembl
Innerchr1:520352..523650hg18UCSC Ensembl
Outerchr1:518352..525650hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg385299
hg195299
hg185299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692356
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444717
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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