A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665166



Internal ID9931271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66362372..66363211hg38UCSC Ensembl
chr12:66756152..66756991hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38840
hg19840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5763130, essv6462457, essv6581946, essv5525372, essv6564189, essv5646942
SamplesNA19399, NA19920, NA18867, NA19247, NA19347, NA18523
Known GenesGRIP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665166
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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