A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13061780



Internal ID3063596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1705527..1822229hg38UCSC Ensembl
chr8:1653693..1770395hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38116703
hg19116703
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615841
Supporting Variants
SamplesHG01054
Known GenesCLN8, DLGAP2, MIR596
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13061780
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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