A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6984n54



Internal ID20140408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105046454..105049579hg38UCSC Ensembl
chr2:105662912..105666037hg19UCSC Ensembl
chr2:105029344..105032469hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg383126
hg193126
hg183126
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv582571, nsv582575, nsv582570
Samples
Known GenesMRPS9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6984n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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