A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665037



Internal ID9931142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125158145..125168545hg38UCSC Ensembl
chr12:125642691..125653091hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3810401
hg1910401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5444736, essv6224794
SamplesNA19445, NA19453
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665037
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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