A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586325



Internal ID6973846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:68630549..68634828hg38UCSC Ensembl
Innerchr1:68630556..68634821hg38UCSC Ensembl
Outerchr1:68630542..68634835hg38UCSC Ensembl
chr1:69096232..69100511hg19UCSC Ensembl
Innerchr1:69096239..69100504hg19UCSC Ensembl
Outerchr1:69096225..69100518hg19UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg384280
hg194280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9961266
SamplesHG04189
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586325
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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