A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1049e59



Internal ID22762269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75540415..75545613hg38UCSC Ensembl
chr13:76114551..76119749hg19UCSC Ensembl
chr13:75012552..75017750hg18UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg385199
hg195199
hg185199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3428782, esv3350275
SamplesNA19238, NA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1049e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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