A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6269900



Internal ID9247303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:18325147..18325911hg38UCSC Ensembl
Outerchr10:18325110..18325961hg38UCSC Ensembl
Innerchr10:18614076..18614840hg19UCSC Ensembl
Outerchr10:18614039..18614890hg19UCSC Ensembl
Cytoband10p12.32
Allele length
AssemblyAllele length
hg38852
hg19852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2662374
Supporting Variants
SamplesNA19914
Known GenesCACNB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6269900
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