A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838932



Internal ID18422666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541857..143748421hg38UCSC Ensembl
Innerchr1:149036524..149243072hg19UCSC Ensembl
Innerchr1:147303148..147509696hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38206565
hg19206549
hg18206549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584601
Supporting Variants
SamplesKSM008
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)essv9838932
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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