A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6422461



Internal ID9399864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132952330..133105436hg38UCSC Ensembl
Outerchr12:132951959..133105806hg38UCSC Ensembl
Innerchr12:133528916..133682022hg19UCSC Ensembl
Outerchr12:133528545..133682392hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38153848
hg19153848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657628
Supporting Variants
SamplesHG00421
Known GenesZNF140, ZNF26, ZNF605, ZNF84
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6422461
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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