A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14483799



Internal ID1787118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53103452..53110405hg38UCSC Ensembl
Innerchr12:53103452..53110405hg38UCSC Ensembl
Outerchr12:53102952..53110905hg38UCSC Ensembl
chr12:53497236..53504189hg19UCSC Ensembl
Innerchr12:53497236..53504189hg19UCSC Ensembl
Outerchr12:53496736..53504689hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg386954
hg196954
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629538
Supporting Variants
SamplesHG01670
Known GenesSOAT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14483799
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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