A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4079n100



Internal ID19014447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131213210..131543555hg38UCSC Ensembl
chr2:131970783..132301128hg19UCSC Ensembl
chr2:131687253..132017598hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38330346
hg19330346
hg18330346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005469, nsv1000842
Samples
Known GenesCCDC74A, LINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, POTEE, 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)dgv4079n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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