A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13194544



Internal ID4312801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48180821..48181419hg38UCSC Ensembl
Innerchr8:48180822..48181419hg38UCSC Ensembl
Outerchr8:48180821..48181420hg38UCSC Ensembl
chr8:49093381..49093979hg19UCSC Ensembl
Innerchr8:49093382..49093979hg19UCSC Ensembl
Outerchr8:49093381..49093980hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38599
hg19599
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617116
Supporting Variants
SamplesHG03866
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13194544
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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