A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11899955



Internal ID1901771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50558581..50646735hg38UCSC Ensembl
chr5:49854415..49942569hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3888155
hg1988155
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605025
Supporting Variants
SamplesNA19749
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11899955
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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