A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602167



Internal ID6642421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128849611..128942558hg38UCSC Ensembl
chr4:129770766..129863713hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg3892948
hg1992948
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11597516
SamplesNA11919
Known GenesJADE1, SCLT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602167
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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