A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11959162



Internal ID2924327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:84459561..84491445hg38UCSC Ensembl
chr5:83755379..83787263hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3831885
hg1931885
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605650
Supporting Variants
SamplesHG02586
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11959162
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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