A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617002



Internal ID6657198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42084510..42090608hg38UCSC Ensembl
chr8:41942028..41948126hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg386099
hg196099
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13182341, essv13182350, essv13182347, essv13182338, essv13182340, essv13182337, essv13182339, essv13182342, essv13182348, essv13182349, essv13182345, essv13182335, essv13182336, essv13182343, essv13182346, essv13182344
SamplesHG03963, HG03944, HG03782, HG03978, NA21103, NA18749, HG03817, HG03995, HG03775, HG04173, HG03745, HG03991, HG03898, HG04134, HG03846, HG03894
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617002
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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