A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13302220



Internal ID2376754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:118806839..118809388hg38UCSC Ensembl
Innerchr8:118806843..118809384hg38UCSC Ensembl
Outerchr8:118806835..118809392hg38UCSC Ensembl
chr8:119819078..119821627hg19UCSC Ensembl
Innerchr8:119819082..119821623hg19UCSC Ensembl
Outerchr8:119819074..119821631hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg382550
hg192550
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618580
Supporting Variants
SamplesHG02107
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13302220
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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