A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2041n54



Internal ID20135465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:85972511..86064017hg38UCSC Ensembl
chr11:85683554..85775059hg19UCSC Ensembl
chr11:85361202..85452707hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3891507
hg1991506
hg1891506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv555643, nsv555642, nsv555644, nsv555641
SamplesNINDS_147, HGDP00517
Known GenesPICALM
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2041n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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