A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586289



Internal ID6626602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66008099..66010095hg38UCSC Ensembl
Innerchr1:66008112..66010083hg38UCSC Ensembl
Outerchr1:66008087..66010108hg38UCSC Ensembl
chr1:66473782..66475778hg19UCSC Ensembl
Innerchr1:66473795..66475766hg19UCSC Ensembl
Outerchr1:66473770..66475791hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381997
hg191997
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9958767
SamplesNA11829
Known GenesPDE4B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586289
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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