A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1764e59



Internal ID22762984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45620603..45624701hg38UCSC Ensembl
chr17:43697969..43702067hg19UCSC Ensembl
chr17:41053752..41057850hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384099
hg194099
hg184099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3368156, esv3451701
SamplesNA12891, NA12878
Known GenesCRHR1, MGC57346
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1764e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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