A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584600



Internal ID18423384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143538619..143735192hg38UCSC Ensembl
Innerchr1:149024802..149229843hg19UCSC Ensembl
Innerchr1:147291426..147496467hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38196574
hg19205042
hg18205042
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3e213
Supporting Variantsessv9838931
Samples2RB
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)esv3584600
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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