A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617373



Internal ID7004258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60467300..60479672hg38UCSC Ensembl
Innerchr8:60467300..60479672hg38UCSC Ensembl
Outerchr8:60466800..60480172hg38UCSC Ensembl
chr8:61379859..61392231hg19UCSC Ensembl
Innerchr8:61379859..61392231hg19UCSC Ensembl
Outerchr8:61379359..61392731hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3812373
hg1912373
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13209882
SamplesHG01945
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617373
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