A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12111538



Internal ID4926702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157668122..157705490hg38UCSC Ensembl
chr5:157095130..157132498hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3837369
hg1937369
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607320
Supporting Variants
SamplesNA12762
Known GenesC5orf52
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12111538
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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