A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14535378



Internal ID4404609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73822108..73834705hg38UCSC Ensembl
Innerchr12:73822154..73834659hg38UCSC Ensembl
Outerchr12:73822062..73834751hg38UCSC Ensembl
chr12:74215888..74228485hg19UCSC Ensembl
Innerchr12:74215934..74228439hg19UCSC Ensembl
Outerchr12:74215842..74228531hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3812598
hg1912598
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629965
Supporting Variants
SamplesHG03920
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14535378
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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