A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1247n100



Internal ID20152863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:85930576..85973892hg38UCSC Ensembl
chr11:85641619..85684935hg19UCSC Ensembl
chr11:85319267..85362583hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3843317
hg1943317
hg1843317
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1040567, nsv1053599
Samples
Known GenesPICALM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1247n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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