A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11779000



Internal ID1780816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1384232..1416519hg38UCSC Ensembl
Innerchr5:1384232..1416519hg38UCSC Ensembl
Outerchr5:1383732..1417019hg38UCSC Ensembl
chr5:1384347..1416634hg19UCSC Ensembl
Innerchr5:1384347..1416634hg19UCSC Ensembl
Outerchr5:1383847..1417134hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3832288
hg1932288
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603807
Supporting Variants
SamplesHG02731
Known GenesSLC6A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11779000
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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