A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5489517



Internal ID9325234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194790410..194791416hg38UCSC Ensembl
Outerchr1:194790253..194791569hg38UCSC Ensembl
Innerchr1:194759540..194760546hg19UCSC Ensembl
Outerchr1:194759383..194760699hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg381317
hg191317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661858
Supporting Variants
SamplesNA18519
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5489517
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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