A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4080n100



Internal ID19014448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131290833..131543555hg38UCSC Ensembl
chr2:132048406..132301128hg19UCSC Ensembl
chr2:131764876..132017598hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38252723
hg19252723
hg18252723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000146, nsv1006672, nsv1003038, nsv1011172, nsv998775, nsv1002719, nsv1010162
Samples
Known GenesCCDC74A, LINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, RNU6-81P, TUBA3D, WTH3DI
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4080n100
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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