A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14607310



Internal ID4609126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113883379..113893218hg38UCSC Ensembl
Innerchr12:113883379..113893218hg38UCSC Ensembl
Outerchr12:113883220..113893424hg38UCSC Ensembl
chr12:114321184..114331023hg19UCSC Ensembl
Innerchr12:114321184..114331023hg19UCSC Ensembl
Outerchr12:114321025..114331229hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg389840
hg199840
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630805
Supporting Variants
SamplesNA18940
Known GenesRBM19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14607310
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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