A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602539



Internal ID6642796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144123986..144146076hg38UCSC Ensembl
chr4:145045139..145067229hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3822091
hg1922091
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11638256, essv11638257, essv11638258
SamplesHG03729, HG02232, HG01670
Known GenesGYPA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602539
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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