A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592190



Internal ID6979517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120815398..121037362hg38UCSC Ensembl
chr2:121572973..121794938hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38221965
hg19221966
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10641194
SamplesHG03645
Known GenesGLI2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592190
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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