A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586092



Internal ID6626405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54558682..54584650hg38UCSC Ensembl
Innerchr1:54558832..54584500hg38UCSC Ensembl
Outerchr1:54558532..54584800hg38UCSC Ensembl
chr1:55024355..55050323hg19UCSC Ensembl
Innerchr1:55024505..55050173hg19UCSC Ensembl
Outerchr1:55024205..55050473hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3825969
hg1925969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv20e214
Supporting Variantsessv9932430, essv9932432, essv9932431
SamplesHG00457, NA21115, NA21133
Known GenesACOT11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586092
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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