A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617554



Internal ID6657749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69684492..69688339hg38UCSC Ensembl
Innerchr8:69684492..69688339hg38UCSC Ensembl
Outerchr8:69683992..69688839hg38UCSC Ensembl
chr8:70596727..70600574hg19UCSC Ensembl
Innerchr8:70596727..70600574hg19UCSC Ensembl
Outerchr8:70596227..70601074hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg383848
hg193848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13219261, essv13219260
SamplesHG03928, HG01870
Known GenesSLCO5A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617554
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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