A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13219260



Internal ID3221076
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617554
Supporting Variants
SamplesHG01870
Known GenesSLCO5A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13219260
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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