A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14609678



Internal ID5396274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:115377531..115394106hg38UCSC Ensembl
Innerchr12:115377531..115394106hg38UCSC Ensembl
Outerchr12:115377031..115394606hg38UCSC Ensembl
chr12:115815336..115831911hg19UCSC Ensembl
Innerchr12:115815336..115831911hg19UCSC Ensembl
Outerchr12:115814836..115832411hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3816576
hg1916576
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630830
Supporting Variants
SamplesNA18942
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14609678
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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