A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4009n100



Internal ID20155625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:96072837..96159625hg38UCSC Ensembl
chr2:96738585..96825363hg19UCSC Ensembl
chr2:96102312..96189090hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3886789
hg1986779
hg1886779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004129, nsv1008495, nsv1004977, nsv1015000
Samples
Known GenesADRA2B, ASTL, DUSP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4009n100
Frequency
Sample Size29084
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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