A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14385251



Internal ID987762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12099851..12101792hg38UCSC Ensembl
Innerchr12:12099858..12101785hg38UCSC Ensembl
Outerchr12:12099844..12101799hg38UCSC Ensembl
chr12:12252785..12254726hg19UCSC Ensembl
Innerchr12:12252792..12254719hg19UCSC Ensembl
Outerchr12:12252778..12254733hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381942
hg191942
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628599
Supporting Variants
SamplesHG00614
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14385251
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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