A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2892n54



Internal ID18995068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116277154..116278002hg38UCSC Ensembl
chr12:116714959..116715807hg19UCSC Ensembl
chr12:115199342..115200190hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38849
hg19849
hg18849
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560316, nsv560314, nsv560317, nsv560315
Samples
Known GenesMED13L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2892n54
Frequency
Sample Size17421
Observed Gain24
Observed Loss13
Observed Complex0
Frequencyn/a


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