A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11777548



Internal ID1779364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1227980..1245183hg38UCSC Ensembl
Innerchr5:1227996..1245167hg38UCSC Ensembl
Outerchr5:1227964..1245199hg38UCSC Ensembl
chr5:1228095..1245298hg19UCSC Ensembl
Innerchr5:1228111..1245282hg19UCSC Ensembl
Outerchr5:1228079..1245314hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3817204
hg1917204
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603802
Supporting Variants
SamplesHG02291
Known GenesSLC6A18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11777548
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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