A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv49e59



Internal ID20126798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16531270..16676368hg38UCSC Ensembl
chr1:16857765..17002863hg19UCSC Ensembl
chr1:16730352..16875450hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38145099
hg19145099
hg18145099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3326076, esv3387438, esv3442238, esv3385432, esv3413552
SamplesNA12891, NA19238, NA19239, NA12878, NA12892
Known GenesCROCCP2, LOC729574, MIR3675, MST1P2, NBPF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv49e59
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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