A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14618497



Internal ID4620313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120306254..120307706hg38UCSC Ensembl
Innerchr12:120306304..120307656hg38UCSC Ensembl
Outerchr12:120306177..120307783hg38UCSC Ensembl
chr12:120744057..120745509hg19UCSC Ensembl
Innerchr12:120744107..120745459hg19UCSC Ensembl
Outerchr12:120743980..120745586hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381453
hg191453
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630921
Supporting Variants
SamplesNA20847
Known GenesSIRT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14618497
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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