A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv869n106



Internal ID19018978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111574896..111589734hg38UCSC Ensembl
chr12:112012700..112027538hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg3814839
hg1914839
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1135035, nsv1110199
SamplesKWS1
Known GenesATXN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv869n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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