A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4034n100



Internal ID20155650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106236698..108333964hg38UCSC Ensembl
chr2:106853154..108950420hg19UCSC Ensembl
chr2:106219586..108316852hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg382097267
hg192097267
hg182097267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999500, nsv1010865
Samples
Known GenesPLGLA, RGPD3, RGPD4, RGPD4-AS1, SLC5A7, ST6GAL2, SULT1C2, SULT1C2P1, SULT1C3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4034n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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