A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661228



Internal ID9580647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1960840..1962549hg38UCSC Ensembl
Outerchr12:1960803..1962599hg38UCSC Ensembl
Innerchr12:2070006..2071715hg19UCSC Ensembl
Outerchr12:2069969..2071765hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381797
hg191797
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5859570
SamplesHG01108
Known GenesDCP1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661228
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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