A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv416e59



Internal ID20127165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46400219..46416205hg38UCSC Ensembl
chr10:47133546..47149544hg19UCSC Ensembl
chr10:46553552..46569550hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3815987
hg1915999
hg1815999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3424470, esv3391435, esv3413028
SamplesNA12891, NA12878, NA12892
Known GenesHNRNPA1P33, LINC00842
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv416e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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