A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3690n100



Internal ID22789777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12772..60213hg38UCSC Ensembl
chr2:12772..60213hg19UCSC Ensembl
chr2:2772..50213hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3847442
hg1947442
hg1847442
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011448, nsv1000745
Samples
Known GenesFAM110C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3690n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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