A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672705



Internal ID9938810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59833492..59840148hg38UCSC Ensembl
chr5:59129318..59135974hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg386657
hg196657
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6077736
SamplesNA18868
Known GenesPDE4D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672705
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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