A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630927



Internal ID6671060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120568517..120569714hg38UCSC Ensembl
Innerchr12:120568667..120569564hg38UCSC Ensembl
Outerchr12:120568367..120569864hg38UCSC Ensembl
chr12:121006320..121007517hg19UCSC Ensembl
Innerchr12:121006470..121007367hg19UCSC Ensembl
Outerchr12:121006170..121007667hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381198
hg191198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14618515, essv14618516, essv14618517, essv14618514
SamplesHG03756, HG03914, HG03823, NA21086
Known GenesRNF10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630927
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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