A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3349e59



Internal ID20130098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:96896855..96896973hg38UCSC Ensembl
chr5:96232559..96232677hg19UCSC Ensembl
chr5:96258315..96258433hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38119
hg19119
hg18119
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3302442, esv3302740
SamplesNA18502, NA18947, NA10851, NA19190, NA19005, NA12891, NA18547, NA18916, NA18582, NA12287, NA19138, NA19238, NA18951, NA12878, NA18532, NA18523, NA18858, NA11881, NA19108, NA19240, NA12749, NA18965
Known GenesERAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3349e59
Frequency
Sample Size185
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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