A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11583482



Internal ID926340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119031543..119037120hg38UCSC Ensembl
chr4:119952698..119958275hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg385578
hg195578
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601958
Supporting Variants
SamplesHG00553
Known GenesSYNPO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11583482
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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