A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2378e59



Internal ID22763598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241516364..241518062hg38UCSC Ensembl
chr2:242455779..242457477hg19UCSC Ensembl
chr2:242104452..242106150hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3353426, esv3393930, esv3419715
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2378e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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