A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673157



Internal ID9592576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57912192..57925243hg38UCSC Ensembl
chr12:58305975..58319026hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3813052
hg1913052
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5921176
SamplesHG01365
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673157
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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