A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11765496



Internal ID2010284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:376684..458243hg38UCSC Ensembl
chr5:376799..458358hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3881560
hg1981560
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603745
Supporting Variants
SamplesHG01855
Known GenesAHRR, C5orf55, EXOC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11765496
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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