A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2167e59



Internal ID22763387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71570114..71572612hg38UCSC Ensembl
chr2:71797244..71799742hg19UCSC Ensembl
chr2:71650752..71653250hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3353650, esv3426297
SamplesNA19239, NA19240
Known GenesDYSF
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2167e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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