A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11984545



Internal ID2390499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:97068367..97204467hg38UCSC Ensembl
chr5:96404071..96540171hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38136101
hg19136101
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605872
Supporting Variants
SamplesHG02121
Known GenesLIX1, RIOK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11984545
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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