A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2628n54



Internal ID22770523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51820845..51823311hg38UCSC Ensembl
chr12:52214629..52217095hg19UCSC Ensembl
chr12:50500896..50503362hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382467
hg192467
hg182467
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558892, nsv558894
Samples
Known GenesFIGNL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2628n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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