A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1984e59



Internal ID20128733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7036741..7053339hg38UCSC Ensembl
chr19:7036752..7053350hg19UCSC Ensembl
chr19:6987752..7004350hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3816599
hg1916599
hg1816599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3365455, esv3328597
SamplesNA12891, NA19240
Known GenesMBD3L2, MBD3L4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1984e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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