A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13133482



Internal ID3135298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22478157..22479251hg38UCSC Ensembl
Innerchr8:22478163..22479246hg38UCSC Ensembl
Outerchr8:22478152..22479257hg38UCSC Ensembl
chr8:22335670..22336764hg19UCSC Ensembl
Innerchr8:22335676..22336759hg19UCSC Ensembl
Outerchr8:22335665..22336770hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg381095
hg191095
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616610
Supporting Variants
SamplesHG00160
Known GenesPPP3CC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13133482
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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