A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15777048



Internal ID2725742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2183351..2238360hg38UCSC Ensembl
chr18:2183351..2238360hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3855010
hg1955010
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641548
Supporting Variants
SamplesHG02398
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15777048
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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