A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3416330



Internal ID15263289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:146223258..146350654hg38UCSC Ensembl
Innerchr3:146223274..146350638hg38UCSC Ensembl
Outerchr3:146223242..146350670hg38UCSC Ensembl
chr3:145941045..146068441hg19UCSC Ensembl
Innerchr3:145941061..146068425hg19UCSC Ensembl
Outerchr3:145941029..146068457hg19UCSC Ensembl
chr3:147423735..147551131hg18UCSC Ensembl
Innerchr3:147423751..147551115hg18UCSC Ensembl
Outerchr3:147423719..147551147hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38127397
hg19127397
hg18127397
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671089, essv8671090
SamplesNA19238, NA19240
Known GenesPLSCR4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3416330
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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