A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4027n100



Internal ID20155643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:97806958..98204639hg38UCSC Ensembl
chr2:98423421..98821102hg19UCSC Ensembl
chr2:97789853..98187534hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38397682
hg19397682
hg18397682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003925, nsv1009218, nsv999442, nsv1004220
Samples
Known GenesTMEM131, VWA3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4027n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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