A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13380581



Internal ID845149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:2745732..2816795hg38UCSC Ensembl
chr9:2745732..2816795hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg3871064
hg1971064
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619298
Supporting Variants
SamplesHG00442
Known GenesKIAA0020
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13380581
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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