A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3982e59



Internal ID22765202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:144364126..144377324hg38UCSC Ensembl
chr7:144061219..144074417hg19UCSC Ensembl
chr7:143692152..143705350hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3813199
hg1913199
hg1813199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3330003, esv3431073
SamplesNA19239, NA12892
Known GenesARHGEF5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3982e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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