A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9958790



Internal ID6584083
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586292
Supporting Variants
SamplesNA19429
Known GenesPDE4B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9958790
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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