A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5659294



Internal ID8636697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52255853..52258369hg38UCSC Ensembl
chr10:54015613..54018129hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382517
hg192517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659556
Supporting Variants
SamplesNA19755
Known GenesPRKG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5659294
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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