A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584844



Internal ID18770314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:51591243..51610762hg38UCSC Ensembl
Innerchr6:51456041..51475560hg19UCSC Ensembl
Innerchr6:51564000..51583519hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3819520
hg1919520
hg1819520
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838346, essv9838347
SamplesOA092, KSF008
Known Genes
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)esv3584844
Frequency
Sample Size34
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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