A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5502023



Internal ID8479426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8236355..8245877hg38UCSC Ensembl
chr12:8388951..8398473hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg389523
hg199523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668107
Supporting Variants
SamplesHG00583
Known GenesFAM86FP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5502023
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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