A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13696593



Internal ID3698409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12500124..12508937hg38UCSC Ensembl
chr10:12542123..12550936hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg388814
hg198814
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622377
Supporting Variants
SamplesHG01890
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13696593
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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