A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2648n54



Internal ID20136072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56157465..56161576hg38UCSC Ensembl
chr12:56551249..56555360hg19UCSC Ensembl
chr12:54837516..54841627hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg384112
hg194112
hg184112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559014, nsv559015, nsv559012, nsv559011
Samples
Known GenesMYL6, MYL6B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2648n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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