A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11954928



Internal ID1956744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80166803..80387438hg38UCSC Ensembl
chr5:79462626..79683257hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38220636
hg19220632
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605557
Supporting Variants
SamplesNA18610
Known GenesCRSP8P, LOC644936, SERINC5, SPZ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11954928
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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