A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14474850



Internal ID5941985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47283229..47286046hg38UCSC Ensembl
Innerchr12:47283229..47286046hg38UCSC Ensembl
Outerchr12:47282953..47286271hg38UCSC Ensembl
chr12:47677012..47679829hg19UCSC Ensembl
Innerchr12:47677012..47679829hg19UCSC Ensembl
Outerchr12:47676736..47680054hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg382818
hg192818
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629414
Supporting Variants
SamplesNA19351
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14474850
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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