A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11430714



Internal ID1435919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52118722..52172074hg38UCSC Ensembl
chr4:52984888..53038240hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3853353
hg1953353
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600489
Supporting Variants
SamplesHG01323
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11430714
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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