A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584591



Internal ID18423375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25266637..25320455hg38UCSC Ensembl
Innerchr1:25593128..25646946hg19UCSC Ensembl
Innerchr1:25465715..25519533hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3853819
hg1953819
hg1853819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838688
SamplesKSF024
Known GenesRHD
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)esv3584591
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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