A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586240



Internal ID6973760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63024409..63027517hg38UCSC Ensembl
Innerchr1:63024459..63027467hg38UCSC Ensembl
Outerchr1:63024359..63027567hg38UCSC Ensembl
chr1:63490080..63493188hg19UCSC Ensembl
Innerchr1:63490130..63493138hg19UCSC Ensembl
Outerchr1:63490030..63493238hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383109
hg193109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9951053, essv9951052
SamplesHG01849, NA19713
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586240
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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