A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5973979



Internal ID8951382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:74824758..74830964hg38UCSC Ensembl
Outerchr10:74824387..74831334hg38UCSC Ensembl
Innerchr10:76584516..76590722hg19UCSC Ensembl
Outerchr10:76584145..76591092hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg386948
hg196948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674729
Supporting Variants
SamplesHG00353
Known GenesKAT6B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5973979
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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