A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586292



Internal ID6626605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66118821..66119632hg38UCSC Ensembl
Innerchr1:66118821..66119632hg38UCSC Ensembl
Outerchr1:66118710..66119722hg38UCSC Ensembl
chr1:66584504..66585315hg19UCSC Ensembl
Innerchr1:66584504..66585315hg19UCSC Ensembl
Outerchr1:66584393..66585405hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38812
hg19812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9958789, essv9958788, essv9958790, essv9958791
SamplesNA19404, NA19028, NA19429, NA19901
Known GenesPDE4B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586292
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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