A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13192135



Internal ID5662518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:46942792..46947373hg38UCSC Ensembl
Innerchr8:46942842..46947323hg38UCSC Ensembl
Outerchr8:46942689..46947476hg38UCSC Ensembl
chr8:47854414..47858995hg19UCSC Ensembl
Innerchr8:47854464..47858945hg19UCSC Ensembl
Outerchr8:47854311..47859098hg19UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg384582
hg194582
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617085
Supporting Variants
SamplesNA19072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13192135
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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