A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1749n54



Internal ID22769644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:38224335..38304833hg38UCSC Ensembl
chr11:38245885..38326383hg19UCSC Ensembl
chr11:38202461..38282959hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg3880499
hg1980499
hg1880499
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv554030, nsv554041, nsv554043, nsv554032, nsv554035, nsv554034, nsv554033, nsv554031, nsv554044, nsv554042
Samples1780862547_A, NINDS_228, 1780854299_A, 1780862470_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1749n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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