A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890679



Internal ID19184981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100563147..100712573hg38UCSC Ensembl
Outerchr5:100563147..100712573hg38UCSC Ensembl
Innerchr5:99898851..100048277hg19UCSC Ensembl
Outerchr5:99898851..100048277hg19UCSC Ensembl
Innerchr5:99926750..100076176hg18UCSC Ensembl
Outerchr5:99926750..100076176hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38149427
hg19149427
hg18149427
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25781005
Samples
Known GenesFAM174A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890679
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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