A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678329



Internal ID9944434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132496815..132496920hg38UCSC Ensembl
chr12:133073401..133073506hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6236218, essv5583012, essv5688345, essv6523821, essv6334845, essv5793953, essv6220642, essv6445888, essv6109344
SamplesHG00442, HG00663, NA18582, NA18638, HG00479, NA18559, HG00513, HG00280, NA18612
Known GenesFBRSL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678329
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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