A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14609675



Internal ID5535321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:115298148..115307988hg38UCSC Ensembl
Innerchr12:115298148..115307988hg38UCSC Ensembl
Outerchr12:115298067..115308013hg38UCSC Ensembl
chr12:115735953..115745793hg19UCSC Ensembl
Innerchr12:115735953..115745793hg19UCSC Ensembl
Outerchr12:115735872..115745818hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg389841
hg199841
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630827
Supporting Variants
SamplesNA18999
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14609675
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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