A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1228n100



Internal ID20152844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76590272..76729177hg38UCSC Ensembl
chr11:76301316..76440221hg19UCSC Ensembl
chr11:75978964..76117869hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38138906
hg19138906
hg18138906
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1043912, nsv1039451
Samples
Known GenesGUCY2EP, LRRC32
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1228n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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