A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15858039



Internal ID4682682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46945111..46956253hg38UCSC Ensembl
chr18:44525074..44536216hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3811143
hg1911143
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642447
Supporting Variants
SamplesHG04209
Known GenesKATNAL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15858039
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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