A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1041n100



Internal ID20152657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5154247..5248100hg38UCSC Ensembl
chr11:5175477..5269330hg19UCSC Ensembl
chr11:5132053..5225906hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3893854
hg1993854
hg1893854
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1045187, nsv1052798, nsv1048593, nsv1051488
Samples
Known GenesHBB, HBBP1, HBD, OR51V1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1041n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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