A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14550986



Internal ID6428896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82145777..82162006hg38UCSC Ensembl
Innerchr12:82145777..82162006hg38UCSC Ensembl
Outerchr12:82145277..82162506hg38UCSC Ensembl
chr12:82539556..82555785hg19UCSC Ensembl
Innerchr12:82539556..82555785hg19UCSC Ensembl
Outerchr12:82539056..82556285hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3816230
hg1916230
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630149
Supporting Variants
SamplesNA20504
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14550986
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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