A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894170



Internal ID18838553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32107275..32154301hg38UCSC Ensembl
Outerchr5:32106978..32167114hg38UCSC Ensembl
Innerchr5:32107381..32154407hg19UCSC Ensembl
Outerchr5:32107084..32167220hg19UCSC Ensembl
Innerchr5:32143138..32190164hg18UCSC Ensembl
Outerchr5:32142841..32202977hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3860137
hg1960137
hg1860137
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787938, essv25791117, essv25789065, essv25792728, essv25788055, essv25789375, essv25789507, essv25793170, essv25788237, essv25793083, essv25788120, essv25791093, essv25788325, essv25792637, essv25787944, essv25788007, essv25788116, essv25788493, essv25789206, essv25788040, essv25788343, essv25792789, essv25789058
Samples
Known GenesGOLPH3, PDZD2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894170
Frequency
Sample Size3017
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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