A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663126



Internal ID9582545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76506919..76508032hg38UCSC Ensembl
chr12:76900699..76901812hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381114
hg191114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5958959, essv5585462, essv5559697, essv5680374, essv6245286, essv6477818, essv5892380, essv5852347
SamplesNA19248, NA18861, NA18520, NA19311, NA19982, NA19256, NA19700, NA18519
Known GenesOSBPL8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663126
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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