A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618595



Internal ID7005477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119253275..119258952hg38UCSC Ensembl
Innerchr8:119253278..119258949hg38UCSC Ensembl
Outerchr8:119253272..119258955hg38UCSC Ensembl
chr8:120265515..120271192hg19UCSC Ensembl
Innerchr8:120265518..120271189hg19UCSC Ensembl
Outerchr8:120265512..120271195hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg385678
hg195678
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13303759
SamplesHG01870
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618595
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