A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11777546



Internal ID1779362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1227977..1245040hg38UCSC Ensembl
chr5:1228092..1245155hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3817064
hg1917064
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603800
Supporting Variants
SamplesHG02291
Known GenesSLC6A18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11777546
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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