A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5449743



Internal ID8945886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112581581..112582643hg38UCSC Ensembl
chr12:113019385..113020447hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg381063
hg191063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662864
Supporting Variants
SamplesHG00476
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5449743
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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