A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671089



Internal ID15100918
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 Flag0
Merged StatusS
Merged Variantsesv3416330
Supporting Variants
SamplesNA19240
Known GenesPLSCR4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671089
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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