A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618254



Internal ID7005136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103517641..103682853hg38UCSC Ensembl
chr8:104529869..104695081hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38165213
hg19165213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13271494
SamplesNA18915
Known GenesRIMS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618254
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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