A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13803482



Internal ID3805298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50995215..50998263hg38UCSC Ensembl
chr10:52754975..52758023hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg383049
hg193049
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623224
Supporting Variants
SamplesHG01862
Known GenesPRKG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13803482
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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