A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9895053



Internal ID4406002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:29138513..29154021hg38UCSC Ensembl
chr1:29465025..29480533hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg3815509
hg1915509
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585602
Supporting Variants
SamplesHG03922
Known GenesSRSF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9895053
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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