A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589319



Internal ID6976647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240691538..240698092hg38UCSC Ensembl
Innerchr1:240691538..240698092hg38UCSC Ensembl
Outerchr1:240691038..240698592hg38UCSC Ensembl
chr1:240854838..240861392hg19UCSC Ensembl
Innerchr1:240854838..240861392hg19UCSC Ensembl
Outerchr1:240854338..240861892hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg386555
hg196555
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10353123
SamplesNA18993
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589319
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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