A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3434e59



Internal ID22764654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181461545..181478243hg38UCSC Ensembl
chr5:180888546..180905244hg19UCSC Ensembl
chr5:180821152..180837850hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3816699
hg1916699
hg1816699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3425517, esv3376773
SamplesNA12891, NA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3434e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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