A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594832



Internal ID6982151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241441114..241450371hg38UCSC Ensembl
chr2:242380529..242389786hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg389258
hg199258
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10893461
SamplesHG02836
Known GenesFARP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594832
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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