A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584741



Internal ID18770211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51639362..51644944hg38UCSC Ensembl
Innerchr19:52142615..52148197hg19UCSC Ensembl
Innerchr19:56834427..56840009hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg385583
hg195583
hg185583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838040, essv9838047, essv9838048, essv9838044, essv9838042, essv9838041, essv9838039, essv9838043
SamplesOA012, OA0039, OA074, KSM003, OA054, OA001, OA020, OA018b
Known GenesSIGLEC14
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)esv3584741
Frequency
Sample Size34
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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