A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11854949



Internal ID4905256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31697710..31772714hg38UCSC Ensembl
chr5:31697817..31772821hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3875005
hg1975005
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604587
Supporting Variants
SamplesNA12717
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11854949
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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