A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5564928



Internal ID8542331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:976686..979442hg38UCSC Ensembl
Outerchr1:976265..979812hg38UCSC Ensembl
Innerchr1:912066..914822hg19UCSC Ensembl
Outerchr1:911645..915192hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg383548
hg193548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670613
Supporting Variants
SamplesNA18550
Known GenesC1orf170
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5564928
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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