A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3423217



Internal ID14923489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31515447..31515466hg38UCSC Ensembl
Innerchr17:31515443..31515470hg38UCSC Ensembl
Outerchr17:31515424..31515489hg38UCSC Ensembl
chr17:29842465..29842484hg19UCSC Ensembl
Innerchr17:29842461..29842488hg19UCSC Ensembl
Outerchr17:29842442..29842507hg19UCSC Ensembl
chr17:26866585..26866604hg18UCSC Ensembl
Innerchr17:26866608..26866581hg18UCSC Ensembl
Outerchr17:26866562..26866627hg18UCSC Ensembl
Cytoband17q11.2
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 Variantsessv9673458, essv9673435, essv9673447
SamplesNA11840, NA12812, NA12045
Known GenesRAB11FIP4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3423217
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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