A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601194



Internal ID6641451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83303752..83312482hg38UCSC Ensembl
chr4:84224905..84233635hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg388731
hg198731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11521226, essv11521225
SamplesHG01176, HG03727
Known GenesHPSE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601194
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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