A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890733



Internal ID19185035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:127347724..127495596hg38UCSC Ensembl
Outerchr5:127347724..127495596hg38UCSC Ensembl
Innerchr5:126683416..126831288hg19UCSC Ensembl
Outerchr5:126683416..126831288hg19UCSC Ensembl
Innerchr5:126711315..126859187hg18UCSC Ensembl
Outerchr5:126711315..126859187hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38147873
hg19147873
hg18147873
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788881
Samples
Known GenesMEGF10
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890733
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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