A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668107



Internal ID9587526
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6489633, essv5502023, essv6359582
SamplesHG00583, HG00654, NA18611
Known GenesFAM86FP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668107
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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