A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661944



Internal ID9581363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:139677624..139678022hg38UCSC Ensembl
chr8:140689867..140690265hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6021267, essv5438311, essv5988474, essv5800345
SamplesNA18517, NA19147, NA19197, NA19116
Known GenesKCNK9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661944
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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