A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11868491



Internal ID6821889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35354988..35366840hg38UCSC Ensembl
chr5:35355090..35366942hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3811853
hg1911853
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604700
Supporting Variants
SamplesNA20900
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11868491
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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