A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1254n100



Internal ID22787341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:96226352..96246624hg38UCSC Ensembl
chr11:95959516..95979788hg19UCSC Ensembl
chr11:95599164..95619436hg18UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3820273
hg1920273
hg1820273
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1048229, nsv1035525
Samples
Known GenesMAML2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1254n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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