A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14486531



Internal ID4488347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55848308..55849383hg38UCSC Ensembl
Innerchr12:55848331..55849361hg38UCSC Ensembl
Outerchr12:55848286..55849406hg38UCSC Ensembl
chr12:56242092..56243167hg19UCSC Ensembl
Innerchr12:56242115..56243145hg19UCSC Ensembl
Outerchr12:56242070..56243190hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg381076
hg191076
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629589
Supporting Variants
SamplesHG01889
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14486531
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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