A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14483867



Internal ID763698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53579059..53580971hg38UCSC Ensembl
Innerchr12:53579111..53580919hg38UCSC Ensembl
Outerchr12:53579007..53581023hg38UCSC Ensembl
chr12:53972843..53974755hg19UCSC Ensembl
Innerchr12:53972895..53974703hg19UCSC Ensembl
Outerchr12:53972791..53974807hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381913
hg191913
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629543
Supporting Variants
SamplesHG00361
Known GenesATF7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14483867
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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