A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9837908



Internal ID18768977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541857..143942271hg38UCSC Ensembl
Innerchr1:149036524..149436842hg19UCSC Ensembl
Innerchr1:147303148..147703466hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38400415
hg19400319
hg18400319
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584603
Supporting Variants
Samples8S
Known GenesFCGR1C, LOC101929780, LOC388692, 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)essv9837908
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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