A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12022022



Internal ID1347414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112102540..112140747hg38UCSC Ensembl
chr5:111438237..111476444hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3838208
hg1938208
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606288
Supporting Variants
SamplesHG01187
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12022022
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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