A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13195392



Internal ID3334668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:49301296..49304015hg38UCSC Ensembl
Innerchr8:49301296..49304015hg38UCSC Ensembl
Outerchr8:49301159..49304190hg38UCSC Ensembl
chr8:50213855..50216574hg19UCSC Ensembl
Innerchr8:50213855..50216574hg19UCSC Ensembl
Outerchr8:50213718..50216749hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg382720
hg192720
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617139
Supporting Variants
SamplesHG02976
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13195392
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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