A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12023929



Internal ID1264939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114504736..114660341hg38UCSC Ensembl
chr5:113840433..113996038hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38155606
hg19155606
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606343
Supporting Variants
SamplesHG01112
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12023929
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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