A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8679045



Internal ID15107937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88996489..88996508hg38UCSC Ensembl
Innerchr5:88996485..88996512hg38UCSC Ensembl
Outerchr5:88996466..88996531hg38UCSC Ensembl
chr5:88292306..88292325hg19UCSC Ensembl
Innerchr5:88292302..88292329hg19UCSC Ensembl
Outerchr5:88292283..88292348hg19UCSC Ensembl
chr5:88328062..88328081hg18UCSC Ensembl
Innerchr5:88328085..88328058hg18UCSC Ensembl
Outerchr5:88328039..88328104hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3424791
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8679045
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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