A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336642



Internal ID14836913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45286632..45286651hg38UCSC Ensembl
Innerchr17:45286628..45286655hg38UCSC Ensembl
Outerchr17:45286609..45286674hg38UCSC Ensembl
chr17:43363999..43364018hg19UCSC Ensembl
Innerchr17:43363995..43364022hg19UCSC Ensembl
Outerchr17:43363976..43364041hg19UCSC Ensembl
chr17:40719782..40719801hg18UCSC Ensembl
Innerchr17:40719805..40719778hg18UCSC Ensembl
Outerchr17:40719759..40719824hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9673857
SamplesNA12872
Known GenesMAP3K14
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336642
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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