A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11890981



Internal ID3694630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45191726..45221278hg38UCSC Ensembl
chr5:45191828..45221380hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3829553
hg1929553
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604943
Supporting Variants
SamplesHG03298
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11890981
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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