A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6983n54



Internal ID20140407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105046454..105049076hg38UCSC Ensembl
chr2:105662912..105665534hg19UCSC Ensembl
chr2:105029344..105031966hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg382623
hg192623
hg182623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv582569, nsv582567, nsv582573, nsv582566, nsv582568, nsv582564, nsv582572, nsv582565, nsv582574
Samples
Known GenesMRPS9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6983n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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