A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676080



Internal ID13724423
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 StatusS
Merged Variantsesv3349666
Supporting Variants
SamplesNA12892
Known GenesSPATA9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676080
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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