A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13182226



Internal ID3184042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:41738277..41741318hg38UCSC Ensembl
Innerchr8:41738288..41741308hg38UCSC Ensembl
Outerchr8:41738267..41741329hg38UCSC Ensembl
chr8:41595795..41598836hg19UCSC Ensembl
Innerchr8:41595806..41598826hg19UCSC Ensembl
Outerchr8:41595785..41598847hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg383042
hg193042
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616992
Supporting Variants
SamplesHG03757
Known GenesANK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13182226
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer