A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15854615



Internal ID2003683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41377697..41494991hg38UCSC Ensembl
chr18:38957661..39074955hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38117295
hg19117295
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642325
Supporting Variants
SamplesHG01852
Known GenesKC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15854615
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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