A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15949338



Internal ID5631393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:78200644..78304439hg38UCSC Ensembl
chr18:75960644..76064439hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38103796
hg19103796
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643247
Supporting Variants
SamplesNA19058
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15949338
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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