A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616095



Internal ID7002982
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1364e214
Supporting Variantsessv13080373
SamplesHG01707
Known GenesMCPH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616095
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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