A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6340479



Internal ID9317882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132926330..133105636hg38UCSC Ensembl
Outerchr12:132925659..133106206hg38UCSC Ensembl
Innerchr12:133502916..133682222hg19UCSC Ensembl
Outerchr12:133502245..133682792hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38180548
hg19180548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668438
Supporting Variants
SamplesHG01107
Known GenesZNF140, ZNF26, ZNF605, ZNF84
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6340479
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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