A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6280404



Internal ID8908503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41281062..41281408hg38UCSC Ensembl
chr12:41674864..41675210hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2661468
Supporting Variants
SamplesHG00372
Known GenesPDZRN4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6280404
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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