A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692356



Internal ID15032075
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 Flag0
Merged StatusS
Merged Variantsesv3444717
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692356
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer