A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694615



Internal ID13695744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:100237..101935hg38UCSC Ensembl
Innerchr5:100935..101237hg38UCSC Ensembl
Outerchr5:99237..102935hg38UCSC Ensembl
chr5:100352..102050hg19UCSC Ensembl
Innerchr5:101050..101352hg19UCSC Ensembl
Outerchr5:99352..103050hg19UCSC Ensembl
chr5:153352..155050hg18UCSC Ensembl
Innerchr5:154352..154050hg18UCSC Ensembl
Outerchr5:152352..156050hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3329124
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694615
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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