A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5642364



Internal ID8619767
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 Flag1
Merged StatusS
Merged Variantsesv2676257
Supporting Variants
SamplesNA19397
Known GenesPDE4B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5642364
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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