A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4074n100



Internal ID20155690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130550793..131291209hg38UCSC Ensembl
chr2:131308366..132048782hg19UCSC Ensembl
chr2:131024836..131765252hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38740417
hg19740417
hg18740417
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003236, nsv1014850, nsv1004615
Samples
Known GenesAMER3, ARHGEF4, CFC1, CFC1B, CYP4F30P, FAM168B, GPR148, LOC440910, LOC646743, PLEKHB2, POTEE, POTEJ, TISP43
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4074n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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