A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642446



Internal ID7029216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46937431..46949528hg38UCSC Ensembl
chr18:44517394..44529491hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3812098
hg1912098
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15858034, essv15858037, essv15858035, essv15858036
SamplesHG03452, NA20764, NA20504, HG04209
Known GenesKATNAL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642446
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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