A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13154935



Internal ID5321292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30590822..30593688hg38UCSC Ensembl
Innerchr8:30590872..30593638hg38UCSC Ensembl
Outerchr8:30590772..30593738hg38UCSC Ensembl
chr8:30448339..30451205hg19UCSC Ensembl
Innerchr8:30448389..30451155hg19UCSC Ensembl
Outerchr8:30448289..30451255hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382867
hg192867
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616789
Supporting Variants
SamplesNA18867
Known GenesGTF2E2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13154935
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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