A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4198n100



Internal ID20155814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240686640..240776474hg38UCSC Ensembl
chr2:241626057..241715891hg19UCSC Ensembl
chr2:241274730..241364564hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3889835
hg1989835
hg1889835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1008598, nsv1011471, nsv1002092
Samples
Known GenesAQP12A, KIF1A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4198n100
Frequency
Sample Size29084
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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