A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669955



Internal ID9589374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52109718..52110287hg38UCSC Ensembl
chr10:53869478..53870047hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38570
hg19570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5540869, essv5734538
SamplesNA19393, NA18505
Known GenesPRKG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669955
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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