A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592100



Internal ID6979427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:116665138..116693252hg38UCSC Ensembl
chr2:117422714..117450828hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3828115
hg1928115
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10636885, essv10636884
SamplesHG01441, HG00277
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592100
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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