A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630947



Internal ID7017761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121394752..121396575hg38UCSC Ensembl
Innerchr12:121394752..121396575hg38UCSC Ensembl
Outerchr12:121394464..121396764hg38UCSC Ensembl
chr12:121832555..121834378hg19UCSC Ensembl
Innerchr12:121832555..121834378hg19UCSC Ensembl
Outerchr12:121832267..121834567hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381824
hg191824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14619051
SamplesHG00436
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630947
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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