A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv812n106



Internal ID22794640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45554568..45554668hg38UCSC Ensembl
chr12:45948351..45948451hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1137645, nsv1129864
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv812n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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