A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622377



Internal ID6662547
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13696595, essv13696603, essv13696599, essv13696598, essv13696593, essv13696597, essv13696601, essv13696604, essv13696602, essv13696596, essv13696594, essv13696600, essv13696592
SamplesHG02339, NA19374, HG01167, HG02054, HG02427, HG01890, HG02332, NA19147, NA18501, HG03565, HG03157, HG03066, HG02284
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622377
Frequency
Sample Size2504
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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