A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629306



Internal ID7016128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41131722..41148076hg38UCSC Ensembl
Innerchr12:41131722..41148076hg38UCSC Ensembl
Outerchr12:41131651..41148147hg38UCSC Ensembl
chr12:41525524..41541878hg19UCSC Ensembl
Innerchr12:41525524..41541878hg19UCSC Ensembl
Outerchr12:41525453..41541949hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3816355
hg1916355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14456432
SamplesNA19390
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629306
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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