A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589045



Internal ID6976462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228119517..228128633hg38UCSC Ensembl
Innerchr1:228119517..228128633hg38UCSC Ensembl
Outerchr1:228119017..228129133hg38UCSC Ensembl
chr1:228307218..228316334hg19UCSC Ensembl
Innerchr1:228307218..228316334hg19UCSC Ensembl
Outerchr1:228306718..228316834hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg389117
hg199117
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10312410, essv10312412, essv10312411
SamplesHG02734, NA20901, HG03779
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589045
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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