A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6988n54



Internal ID20140412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106262145..107828618hg38UCSC Ensembl
chr2:106878601..108445074hg19UCSC Ensembl
chr2:106245033..107811506hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg381566474
hg191566474
hg181566474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv582600, nsv582594
Samples
Known GenesPLGLA, RGPD3, RGPD4, RGPD4-AS1, ST6GAL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6988n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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