A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6506969



Internal ID9484372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:193281068..193291659hg38UCSC Ensembl
Outerchr3:193281031..193291709hg38UCSC Ensembl
Innerchr3:192998857..193009448hg19UCSC Ensembl
Outerchr3:192998820..193009498hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3810679
hg1910679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658671
Supporting Variants
SamplesNA18558
Known GenesATP13A5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6506969
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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