A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349666



Internal ID15196648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95658501..95658525hg38UCSC Ensembl
Innerchr5:95658493..95658531hg38UCSC Ensembl
Outerchr5:95658469..95658557hg38UCSC Ensembl
chr5:94994205..94994229hg19UCSC Ensembl
Innerchr5:94994197..94994235hg19UCSC Ensembl
Outerchr5:94994173..94994261hg19UCSC Ensembl
chr5:95019961..95019985hg18UCSC Ensembl
Innerchr5:95019991..95019953hg18UCSC Ensembl
Outerchr5:95019929..95020017hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676080, essv8676079, essv8676081
SamplesNA12891, NA12878, NA12892
Known GenesSPATA9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349666
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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