A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891148



Internal ID18838858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:226235871..226306814hg38UCSC Ensembl
Outerchr1:226235871..226306814hg38UCSC Ensembl
Innerchr1:226423572..226494515hg19UCSC Ensembl
Outerchr1:226423572..226494515hg19UCSC Ensembl
Innerchr1:224490195..224561138hg18UCSC Ensembl
Outerchr1:224490195..224561138hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3870944
hg1970944
hg1870944
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25786066
Samples
Known GenesLIN9
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891148
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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