A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14476800



Internal ID4672838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48593799..48594280hg38UCSC Ensembl
Innerchr12:48593814..48594265hg38UCSC Ensembl
Outerchr12:48593784..48594295hg38UCSC Ensembl
chr12:48987582..48988063hg19UCSC Ensembl
Innerchr12:48987597..48988048hg19UCSC Ensembl
Outerchr12:48987567..48988078hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629440
Supporting Variants
SamplesHG04198
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14476800
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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