A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630798



Internal ID7017613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113409901..113410905hg38UCSC Ensembl
Innerchr12:113409901..113410905hg38UCSC Ensembl
Outerchr12:113409774..113411049hg38UCSC Ensembl
chr12:113847706..113848710hg19UCSC Ensembl
Innerchr12:113847706..113848710hg19UCSC Ensembl
Outerchr12:113847579..113848854hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg381005
hg191005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14606796, essv14606795, essv14606794
SamplesHG03792, NA19916, HG03824
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630798
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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