A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894188



Internal ID18838571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:52769347..52857921hg38UCSC Ensembl
Outerchr5:52769347..52857921hg38UCSC Ensembl
Innerchr5:52065181..52153755hg19UCSC Ensembl
Outerchr5:52065181..52153755hg19UCSC Ensembl
Innerchr5:52100938..52189512hg18UCSC Ensembl
Outerchr5:52100938..52189512hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3888575
hg1988575
hg1888575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787797
Samples
Known GenesITGA1, PELO
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894188
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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