A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432213



Internal ID15279169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248933430..248938897hg38UCSC Ensembl
Innerchr1:248934430..248937928hg38UCSC Ensembl
Outerchr1:248932430..248938897hg38UCSC Ensembl
chr1:249227629..249233096hg19UCSC Ensembl
Innerchr1:249228629..249232127hg19UCSC Ensembl
Outerchr1:249226629..249233096hg19UCSC Ensembl
chr1:247194252..247199750hg18UCSC Ensembl
Innerchr1:247195252..247198750hg18UCSC Ensembl
Outerchr1:247193252..247200750hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg385468
hg195468
hg185499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv338e59
Supporting Variantsessv8692238
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432213
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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