A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3849e59



Internal ID22765069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:70495330..70497428hg38UCSC Ensembl
chr7:69960316..69962414hg19UCSC Ensembl
chr7:69598252..69600350hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3352638, esv3393213
SamplesNA12891, NA19239
Known GenesAUTS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3849e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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