A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630426



Internal ID7017244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94982585..94985385hg38UCSC Ensembl
Innerchr12:94982630..94985340hg38UCSC Ensembl
Outerchr12:94982540..94985430hg38UCSC Ensembl
chr12:95376361..95379161hg19UCSC Ensembl
Innerchr12:95376406..95379116hg19UCSC Ensembl
Outerchr12:95376316..95379206hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg382801
hg192801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14573936, essv14573935, essv14573934, essv14573933, essv14573932
SamplesNA18498, NA19070, NA18976, HG03046, NA19149
Known GenesNDUFA12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630426
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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