A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630396



Internal ID6670533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93390495..93394144hg38UCSC Ensembl
Innerchr12:93390505..93394134hg38UCSC Ensembl
Outerchr12:93390485..93394154hg38UCSC Ensembl
chr12:93784271..93787920hg19UCSC Ensembl
Innerchr12:93784281..93787910hg19UCSC Ensembl
Outerchr12:93784261..93787930hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383650
hg193650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14570888, essv14570883, essv14570879, essv14570880, essv14570891, essv14570886, essv14570881, essv14570884, essv14570889, essv14570885, essv14570890, essv14570887, essv14570882
SamplesNA18508, NA19355, NA19393, HG03168, HG03091, HG03342, NA19917, HG02479, HG02976, HG02429, HG02970, HG03445, HG02760
Known GenesNUDT4, NUDT4P1, NUDT4P2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630396
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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