A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13080373



Internal ID1839539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6579833..6597980hg38UCSC Ensembl
Innerchr8:6579877..6597936hg38UCSC Ensembl
Outerchr8:6579789..6598024hg38UCSC Ensembl
chr8:6437354..6455501hg19UCSC Ensembl
Innerchr8:6437398..6455457hg19UCSC Ensembl
Outerchr8:6437310..6455545hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3818148
hg1918148
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616095
Supporting Variants
SamplesHG01707
Known GenesMCPH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13080373
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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