A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13080374



Internal ID1839515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6579942..6598624hg38UCSC Ensembl
chr8:6437463..6456145hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3818683
hg1918683
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616096
Supporting Variants
SamplesHG01707
Known GenesMCPH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13080374
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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