A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660369



Internal ID9579788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51443916..51454462hg38UCSC Ensembl
chr10:53203676..53214222hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3810547
hg1910547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5916902, essv5931644, essv5995978, essv6151712, essv5838592, essv5439759
SamplesHG01356, HG01198, NA12878, NA12892, HG01113, HG01055
Known GenesPRKG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660369
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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