A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678321



Internal ID9597740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106300909..106301901hg38UCSC Ensembl
chr12:106694687..106695679hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38993
hg19993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5922799
SamplesNA19904
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678321
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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