A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2761n54



Internal ID20136185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:84830362..84945475hg38UCSC Ensembl
chr12:85224141..85339254hg19UCSC Ensembl
chr12:83748272..83863385hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38115114
hg19115114
hg18115114
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559645, nsv559646, nsv559647
Samples
Known GenesSLC6A15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2761n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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