A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3693n100



Internal ID22789780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12772..176399hg38UCSC Ensembl
chr2:12772..176399hg19UCSC Ensembl
chr2:2772..166399hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38163628
hg19163628
hg18163628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998709, nsv1009957, nsv1008068, nsv998242
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)dgv3693n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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