A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678554



Internal ID9944659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15272300..15295467hg38UCSC Ensembl
chr12:15425234..15448401hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3823168
hg1923168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5619998, essv5624873
SamplesNA20775, NA20778
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678554
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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