A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631318



Internal ID6671445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132801812..132847948hg38UCSC Ensembl
Innerchr12:132801844..132847917hg38UCSC Ensembl
Outerchr12:132801781..132847980hg38UCSC Ensembl
chr12:133378398..133424534hg19UCSC Ensembl
Innerchr12:133378430..133424503hg19UCSC Ensembl
Outerchr12:133378367..133424566hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3846137
hg1946137
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv318e214
Supporting Variantsessv14649905, essv14649904
SamplesNA19917, NA20503
Known GenesCHFR, GOLGA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631318
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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