A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2626n54



Internal ID22770521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51820565..51822032hg38UCSC Ensembl
chr12:52214349..52215816hg19UCSC Ensembl
chr12:50500616..50502083hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381468
hg191468
hg181468
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558882, nsv558889, nsv558888, nsv558881, nsv558886
Samples
Known GenesFIGNL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2626n54
Frequency
Sample Size17421
Observed Gain32
Observed Loss9
Observed Complex0
Frequencyn/a


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