A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893774



Internal ID19184594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:132705936..132933476hg38UCSC Ensembl
Outerchr3:132705936..132933476hg38UCSC Ensembl
Innerchr3:132424780..132652320hg19UCSC Ensembl
Outerchr3:132424780..132652320hg19UCSC Ensembl
Innerchr3:133907470..134135010hg18UCSC Ensembl
Outerchr3:133907470..134135010hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38227541
hg19227541
hg18227541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25785489
Samples
Known GenesNPHP3, NPHP3-ACAD11, NPHP3-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893774
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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