A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306471



Internal ID15153419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12850383..12850384hg38UCSC Ensembl
Innerchr17:12850356..12850411hg38UCSC Ensembl
Outerchr17:12850355..12850412hg38UCSC Ensembl
chr17:12753700..12753701hg19UCSC Ensembl
Innerchr17:12753673..12753728hg19UCSC Ensembl
Outerchr17:12753672..12753729hg19UCSC Ensembl
chr17:12694425..12694426hg18UCSC Ensembl
Innerchr17:12694453..12694398hg18UCSC Ensembl
Outerchr17:12694397..12694454hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3869
hg1969
hg1869
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7748771, essv7751869, essv7744957, essv7746217, essv7755321, essv7741866, essv7741690, essv7762613, essv7760191, essv7744555, essv7743736
SamplesNA18502, NA18603, NA18526, NA18498, NA18956, NA18572, NA18566, NA18542, NA18501, NA18609, NA18552
Known GenesARHGAP44
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306471
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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