A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3e213



Internal ID20151550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143538619..143751078hg38UCSC Ensembl
chr1:149024802..149245728hg19UCSC Ensembl
chr1:147291426..147512352hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38212460
hg19220927
hg18220927
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584601, esv3584600, esv3584602
Samples2RB, KSM006, KSM008
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisWe applied stringent filtering criteria such that CNV had to be a minimum of 1 kb and span 5 consecutive probes, and be detected by at least 2 out of the 3 algorithms. In addition we excluded CNVs that were on the X and Y-chromosomes, or approximately 300 kb adjacent to the centromeres and telomeres.
PlatformAffymetrix Genome-Wide Human SNP Array 6.0
Comments
ReferenceMokhtar_et_al_2014
Pubmed ID24956385
Accession Number(s)dgv3e213
Frequency
Sample Size34
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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