A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2963n54



Internal ID20136387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128794719..128847110hg38UCSC Ensembl
chr12:129279264..129331655hg19UCSC Ensembl
chr12:127845217..127897608hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3852392
hg1952392
hg1852392
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560687, nsv560686
Samples
Known GenesSLC15A4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2963n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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