A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13156393



Internal ID3158209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30854185..30856966hg38UCSC Ensembl
Innerchr8:30854185..30856966hg38UCSC Ensembl
Outerchr8:30853953..30857216hg38UCSC Ensembl
chr8:30711701..30714482hg19UCSC Ensembl
Innerchr8:30711701..30714482hg19UCSC Ensembl
Outerchr8:30711469..30714732hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382782
hg192782
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616797
Supporting Variants
SamplesHG01173
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13156393
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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