A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3804n100



Internal ID20155420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45180603..45750333hg38UCSC Ensembl
chr2:45407742..45977472hg19UCSC Ensembl
chr2:45261246..45830976hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38569731
hg19569731
hg18569731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005570, nsv1009401, nsv1011051, nsv1009252, nsv1012177, nsv1005638
Samples
Known GenesLINC01121, PRKCE, SRBD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3804n100
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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