A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308122



Internal ID15155070
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 StatusM
Merged Variants
Supporting Variantsessv7840723, essv7840155, essv7841090, essv7842664, essv7841825
SamplesNA12891, NA19238, NA12878, NA12892, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308122
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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