A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4075n100



Internal ID19014443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130720375..131521740hg38UCSC Ensembl
chr2:131477948..132279313hg19UCSC Ensembl
chr2:131194418..131995783hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38801366
hg19801366
hg18801366
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003226, nsv1003367
Samples
Known GenesAMER3, ARHGEF4, FAM168B, GPR148, LINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, PLEKHB2, 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)dgv4075n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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