A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14608950



Internal ID4950171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114460361..114463895hg38UCSC Ensembl
Innerchr12:114460370..114463887hg38UCSC Ensembl
Outerchr12:114460353..114463904hg38UCSC Ensembl
chr12:114898166..114901700hg19UCSC Ensembl
Innerchr12:114898175..114901692hg19UCSC Ensembl
Outerchr12:114898158..114901709hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg383535
hg193535
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630814
Supporting Variants
SamplesNA12815
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14608950
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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