A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5537782



Internal ID9479060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122906705..122911130hg38UCSC Ensembl
Outerchr12:122906548..122911296hg38UCSC Ensembl
Innerchr12:123391252..123395677hg19UCSC Ensembl
Outerchr12:123391095..123395843hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384749
hg194749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2660091
Supporting Variants
SamplesNA18950
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5537782
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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