A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13803760



Internal ID3805576
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623229
Supporting Variants
SamplesHG01673
Known GenesPRKG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13803760
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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