A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586200



Internal ID6973720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:60232208..60334891hg38UCSC Ensembl
chr1:60697880..60800563hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38102684
hg19102684
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9945785, essv9945786
SamplesNA21111, NA21089
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586200
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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