A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304043



Internal ID14804305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62574338..62574339hg38UCSC Ensembl
Innerchr3:62574311..62574366hg38UCSC Ensembl
Outerchr3:62574310..62574367hg38UCSC Ensembl
chr3:62560013..62560014hg19UCSC Ensembl
Innerchr3:62559986..62560041hg19UCSC Ensembl
Outerchr3:62559985..62560042hg19UCSC Ensembl
chr3:62535053..62535054hg18UCSC Ensembl
Innerchr3:62535081..62535026hg18UCSC Ensembl
Outerchr3:62535025..62535082hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38218
hg19218
hg18218
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7741195, essv7759036, essv7743285, essv7746013, essv7746492, essv7756396, essv7761640, essv7755388
SamplesNA18517, NA19108, NA18912, NA18508, NA18916, NA19238, NA18858, NA19240
Known GenesCADPS
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304043
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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