A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4195n100



Internal ID22790282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239186421..239226707hg38UCSC Ensembl
chr2:240108117..240148403hg19UCSC Ensembl
chr2:239773054..239813340hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3840287
hg1940287
hg1840287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011161, nsv1014488, nsv1006054, nsv1007465
Samples
Known GenesHDAC4, MGC16025
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4195n100
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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