A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13149507



Internal ID3151323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26330703..26332432hg38UCSC Ensembl
Innerchr8:26330743..26332393hg38UCSC Ensembl
Outerchr8:26330664..26332472hg38UCSC Ensembl
chr8:26188219..26189948hg19UCSC Ensembl
Innerchr8:26188259..26189909hg19UCSC Ensembl
Outerchr8:26188180..26189988hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg381730
hg191730
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616699
Supporting Variants
SamplesNA19214
Known GenesPPP2R2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13149507
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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