A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5843150



Internal ID9508888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124357035..124364933hg38UCSC Ensembl
chr8:125369276..125377174hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg387899
hg197899
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669472
Supporting Variants
SamplesNA18988
Known GenesTMEM65
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5843150
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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