A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13177401



Internal ID1694173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40393031..40397698hg38UCSC Ensembl
Innerchr8:40393049..40397681hg38UCSC Ensembl
Outerchr8:40393014..40397716hg38UCSC Ensembl
chr8:40250550..40255217hg19UCSC Ensembl
Innerchr8:40250568..40255200hg19UCSC Ensembl
Outerchr8:40250533..40255235hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg384668
hg194668
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616972
Supporting Variants
SamplesHG01571
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13177401
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