A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4005n100



Internal ID22790092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:91844970..92117746hg38UCSC Ensembl
chr2:92032996..92305772hg19UCSC Ensembl
chr2:91396723..91669499hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38272777
hg19272777
hg18272777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003687, nsv1012679
Samples
Known GenesACTR3BP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4005n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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