A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1249n106



Internal ID19019358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:78632170..78632253hg38UCSC Ensembl
chr15:78924512..78924595hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1131207, nsv1138391
SamplesKWS1, KWS2
Known GenesCHRNB4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1249n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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