A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9623470



Internal ID13340975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95658495..95658514hg38UCSC Ensembl
Innerchr5:95658491..95658518hg38UCSC Ensembl
Outerchr5:95658472..95658537hg38UCSC Ensembl
chr5:94994199..94994218hg19UCSC Ensembl
Innerchr5:94994195..94994222hg19UCSC Ensembl
Outerchr5:94994176..94994241hg19UCSC Ensembl
chr5:95019955..95019974hg18UCSC Ensembl
Innerchr5:95019978..95019951hg18UCSC Ensembl
Outerchr5:95019932..95019997hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3388266
Supporting Variants
SamplesNA12043
Known GenesSPATA9
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9623470
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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