A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592214



Internal ID6979541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121633132..121701974hg38UCSC Ensembl
chr2:122390708..122459550hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3868843
hg1968843
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10644431
SamplesHG03978
Known GenesCLASP1, NIFK-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592214
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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