A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623229



Internal ID6663397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51334298..51455721hg38UCSC Ensembl
chr10:53094058..53215481hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38121424
hg19121424
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13803760
SamplesHG01673
Known GenesPRKG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623229
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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