A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5402152



Internal ID8379555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:919619..920425hg38UCSC Ensembl
chr12:1028785..1029591hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38807
hg19807
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2673796
Supporting Variants
SamplesHG01101
Known GenesRAD52
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5402152
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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