A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306710



Internal ID14806972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146990043..146990044hg38UCSC Ensembl
Innerchr5:146990021..146990066hg38UCSC Ensembl
Outerchr5:146990020..146990067hg38UCSC Ensembl
chr5:146369606..146369607hg19UCSC Ensembl
Innerchr5:146369584..146369629hg19UCSC Ensembl
Outerchr5:146369583..146369630hg19UCSC Ensembl
chr5:146349799..146349800hg18UCSC Ensembl
Innerchr5:146349822..146349777hg18UCSC Ensembl
Outerchr5:146349776..146349823hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7768220, essv7765385, essv7764045, essv7765815, essv7769468, essv7769204, essv7765111, essv7764394, essv7769985, essv7768848
SamplesNA12043, NA12249, NA12815, NA12287, NA07346, NA12872, NA19141, NA12812, NA12045, NA12874
Known GenesPPP2R2B
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306710
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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