A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1830e59



Internal ID22763050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81415657..81416855hg38UCSC Ensembl
chr17:79389457..79390655hg19UCSC Ensembl
chr17:77004052..77005250hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3431881, esv3451602
SamplesNA19239, NA19240
Known GenesBAHCC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1830e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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