A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641454



Internal ID7028228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83131911..83179676hg38UCSC Ensembl
chr17:81079681..81127445hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3847766
hg1947765
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15771424, essv15771417, essv15771425, essv15771419, essv15771422, essv15771423, essv15771416, essv15771418, essv15771421, essv15771426, essv15771420, essv15771427
SamplesNA19307, NA19131, HG03246, HG02816, NA20296, HG03240, HG01915, HG03066, HG02053, HG02679, HG03538, HG03072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641454
Frequency
Sample Size2504
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer