A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15807378



Internal ID5809194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11763982..11768472hg38UCSC Ensembl
Innerchr18:11763982..11768472hg38UCSC Ensembl
Outerchr18:11763885..11768560hg38UCSC Ensembl
chr18:11763981..11768471hg19UCSC Ensembl
Innerchr18:11763981..11768471hg19UCSC Ensembl
Outerchr18:11763884..11768559hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg384491
hg194491
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641812
Supporting Variants
SamplesNA12340
Known GenesGNAL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15807378
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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