A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11818541



Internal ID3196752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14980148..15059855hg38UCSC Ensembl
chr5:14980257..15059964hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3879708
hg1979708
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604103
Supporting Variants
SamplesHG02808
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11818541
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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