A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589391



Internal ID6629680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243277221..243282399hg38UCSC Ensembl
Innerchr1:243277221..243282399hg38UCSC Ensembl
Outerchr1:243277069..243282549hg38UCSC Ensembl
chr1:243440523..243445701hg19UCSC Ensembl
Innerchr1:243440523..243445701hg19UCSC Ensembl
Outerchr1:243440371..243445851hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg385179
hg195179
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10358361
SamplesHG00556
Known GenesSDCCAG8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589391
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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