A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629080



Internal ID7015902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32465411..32473835hg38UCSC Ensembl
Innerchr12:32465411..32473835hg38UCSC Ensembl
Outerchr12:32465198..32474120hg38UCSC Ensembl
chr12:32618345..32626769hg19UCSC Ensembl
Innerchr12:32618345..32626769hg19UCSC Ensembl
Outerchr12:32618132..32627054hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg388425
hg198425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14438229, essv14438233, essv14438230, essv14438232, essv14438228, essv14438231
SamplesHG02621, NA19917, HG02757, HG03388, HG03433, HG03025
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629080
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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