A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660858



Internal ID9926963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3380213..3383290hg38UCSC Ensembl
chr2:3383984..3387061hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg383078
hg193078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6208038
SamplesHG01134
Known GenesTRAPPC12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660858
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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