A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv749e214



Internal ID20122172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162204243..162287181hg38UCSC Ensembl
chr2:163060753..163143691hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3882939
hg1982939
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3593178, esv3593179
SamplesHG03258
Known GenesFAP, IFIH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv749e214
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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