A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616096



Internal ID7002983
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1364e214
Supporting Variantsessv13080374
SamplesHG01707
Known GenesMCPH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616096
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer