A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11357362



Internal ID1893628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:12107872..12150175hg38UCSC Ensembl
Innerchr4:12107872..12150175hg38UCSC Ensembl
Outerchr4:12107372..12150675hg38UCSC Ensembl
chr4:12109496..12151799hg19UCSC Ensembl
Innerchr4:12109496..12151799hg19UCSC Ensembl
Outerchr4:12108996..12152299hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3842304
hg1942304
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599670
Supporting Variants
SamplesHG01781
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11357362
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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