A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741203



Internal ID15088260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:96622633..96622772hg38UCSC Ensembl
Innerchr5:96622683..96622722hg38UCSC Ensembl
Outerchr5:96622583..96622822hg38UCSC Ensembl
chr5:95958337..95958476hg19UCSC Ensembl
Innerchr5:95958387..95958426hg19UCSC Ensembl
Outerchr5:95958287..95958526hg19UCSC Ensembl
chr5:95984093..95984232hg18UCSC Ensembl
Innerchr5:95984143..95984182hg18UCSC Ensembl
Outerchr5:95984043..95984282hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38140
hg19140
hg18140
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369890
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741203
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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