A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15824367



Internal ID2156761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26450512..26452574hg38UCSC Ensembl
Innerchr18:26450563..26452523hg38UCSC Ensembl
Outerchr18:26450461..26452625hg38UCSC Ensembl
chr18:24030476..24032538hg19UCSC Ensembl
Innerchr18:24030527..24032487hg19UCSC Ensembl
Outerchr18:24030425..24032589hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg382063
hg192063
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642023
Supporting Variants
SamplesHG01950
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15824367
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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