A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11376054



Internal ID1576306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:27261983..27400082hg38UCSC Ensembl
chr4:27263605..27401704hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38138100
hg19138100
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599997
Supporting Variants
SamplesHG01461
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11376054
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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