A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3434589



Internal ID14934857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:20049016..20049035hg38UCSC Ensembl
Innerchr3:20049012..20049039hg38UCSC Ensembl
Outerchr3:20048993..20049058hg38UCSC Ensembl
chr3:20090508..20090527hg19UCSC Ensembl
Innerchr3:20090504..20090531hg19UCSC Ensembl
Outerchr3:20090485..20090550hg19UCSC Ensembl
chr3:20065512..20065531hg18UCSC Ensembl
Innerchr3:20065535..20065508hg18UCSC Ensembl
Outerchr3:20065489..20065554hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9608502
SamplesNA12043
Known GenesKAT2B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3434589
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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