A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15811825



Internal ID2869555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13127869..13135130hg38UCSC Ensembl
Innerchr18:13127888..13135112hg38UCSC Ensembl
Outerchr18:13127851..13135149hg38UCSC Ensembl
chr18:13127868..13135129hg19UCSC Ensembl
Innerchr18:13127887..13135111hg19UCSC Ensembl
Outerchr18:13127850..13135148hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg387262
hg197262
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641850
Supporting Variants
SamplesHG02546
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15811825
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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