A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9298n54



Internal ID20142722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144088649..144122057hg38UCSC Ensembl
chr4:145009802..145043210hg19UCSC Ensembl
chr4:145229252..145262660hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3833409
hg1933409
hg1833409
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv595619, nsv595618
Samples
Known GenesGYPA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9298n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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