A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676257



Internal ID9595676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66158765..66165623hg38UCSC Ensembl
chr1:66624448..66631306hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg386859
hg196859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5642364, essv5507298
SamplesNA19396, NA19397
Known GenesPDE4B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676257
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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