A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661938



Internal ID9928043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50751748..50753797hg38UCSC Ensembl
chr12:51145531..51147580hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382050
hg192050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5671985, essv5664233, essv5759031, essv6003781, essv6272234
SamplesHG01465, HG01350, HG01550, HG01183, HG01136
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661938
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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