A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673908



Internal ID9940013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53579204..53581072hg38UCSC Ensembl
chr12:53972988..53974856hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381869
hg191869
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5689430
SamplesHG00361
Known GenesATF7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673908
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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