A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4114n100



Internal ID20155730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:183277998..186056890hg38UCSC Ensembl
chr2:184142726..186921617hg19UCSC Ensembl
chr2:183850971..186629862hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg382778893
hg192778892
hg182778892
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003247, nsv1011850, nsv1002759
Samples
Known GenesFSIP2, ZNF804A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4114n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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