A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11821342



Internal ID4197027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17412553..17483636hg38UCSC Ensembl
chr5:17412662..17483745hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3871084
hg1971084
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604160
Supporting Variants
SamplesHG03784
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11821342
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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