A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3694n100



Internal ID22789781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12772..246301hg38UCSC Ensembl
chr2:12772..246301hg19UCSC Ensembl
chr2:2772..236301hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38233530
hg19233530
hg18233530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014980, nsv1001162, nsv1001302
Samples
Known GenesFAM110C, SH3YL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3694n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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