A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2791n54



Internal ID20136215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93570630..93572036hg38UCSC Ensembl
chr12:93964406..93965812hg19UCSC Ensembl
chr12:92488537..92489943hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381407
hg191407
hg181407
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559779, nsv559784, nsv559782, nsv559783
Samples
Known GenesSOCS2, SOCS2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2791n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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