A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv142n106



Internal ID22793970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109683378..109702878hg38UCSC Ensembl
chr1:110226000..110245500hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3819501
hg1919501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1121767, nsv1126202
SamplesKWS2, KWS1
Known GenesGSTM1, GSTM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv142n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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