A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584554



Internal ID18423338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46225568..46333401hg38UCSC Ensembl
Innerchr10:47596804..47704637hg19UCSC Ensembl
Innerchr10:47066810..47174643hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38107834
hg19107834
hg18107834
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838782
SamplesKSM008
Known GenesANTXRL, ANTXRLP1
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)esv3584554
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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