A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv718n106



Internal ID20160075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106915474..106918874hg38UCSC Ensembl
chr11:106786200..106789600hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg383401
hg193401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1120610, nsv1132283
SamplesKWS1
Known GenesGUCY1A2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv718n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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