A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618711



Internal ID7005593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125147606..125154828hg38UCSC Ensembl
chr8:126159848..126167070hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg387223
hg197223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13315986
SamplesHG03836
Known GenesNSMCE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618711
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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