A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5989106



Internal ID8966509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132298824..132299913hg38UCSC Ensembl
Outerchr12:132298787..132299963hg38UCSC Ensembl
Innerchr12:132875410..132876499hg19UCSC Ensembl
Outerchr12:132875373..132876549hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381177
hg191177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2665547
Supporting Variants
SamplesHG00699
Known GenesGALNT9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5989106
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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