A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7842664



Internal ID15008880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88996498..88996499hg38UCSC Ensembl
Innerchr5:88996481..88996516hg38UCSC Ensembl
Outerchr5:88996480..88996517hg38UCSC Ensembl
chr5:88292315..88292316hg19UCSC Ensembl
Innerchr5:88292298..88292333hg19UCSC Ensembl
Outerchr5:88292297..88292334hg19UCSC Ensembl
chr5:88328071..88328072hg18UCSC Ensembl
Innerchr5:88328089..88328054hg18UCSC Ensembl
Outerchr5:88328053..88328090hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38267
hg19267
hg18267
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308122
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7842664
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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