A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602040



Internal ID6989074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:123039545..123079247hg38UCSC Ensembl
chr4:123960700..124000402hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3839703
hg1939703
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1022e214
Supporting Variantsessv11591349
SamplesHG01161
Known GenesSPATA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602040
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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