A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15771478



Internal ID2857219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:38683..80723hg38UCSC Ensembl
Innerchr18:38730..80677hg38UCSC Ensembl
Outerchr18:38637..80770hg38UCSC Ensembl
chr18:38683..80723hg19UCSC Ensembl
Innerchr18:38730..80677hg19UCSC Ensembl
Outerchr18:38637..80770hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3842041
hg1942041
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641459
Supporting Variants
SamplesHG02522
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15771478
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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