A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4004n100



Internal ID20155620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:91730225..92117746hg38UCSC Ensembl
chr2:91918251..92305772hg19UCSC Ensembl
chr2:91281978..91669499hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38387522
hg19387522
hg18387522
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011666, nsv1014593
Samples
Known GenesACTR3BP2, GGT8P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4004n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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