A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6586169



Internal ID9563572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116251435..116254782hg38UCSC Ensembl
chr12:116689240..116692587hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2677842
Supporting Variants
SamplesNA19383
Known GenesMED13L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6586169
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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