A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741202



Internal ID15088264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:91193921..91193921hg38UCSC Ensembl
Innerchr5:91193920..91193922hg38UCSC Ensembl
Outerchr5:91193871..91193971hg38UCSC Ensembl
chr5:90489738..90489738hg19UCSC Ensembl
Innerchr5:90489737..90489739hg19UCSC Ensembl
Outerchr5:90489688..90489788hg19UCSC Ensembl
chr5:90525494..90525494hg18UCSC Ensembl
Innerchr5:90525495..90525493hg18UCSC Ensembl
Outerchr5:90525444..90525544hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381082
hg191082
hg181082
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3351973
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741202
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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