A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15818633



Internal ID5820449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21412340..21588139hg38UCSC Ensembl
chr18:18992301..19168100hg19UCSC Ensembl
Cytoband18q11.1
Allele length
AssemblyAllele length
hg38175800
hg19175800
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641938
Supporting Variants
SamplesHG01986
Known GenesESCO1, GREB1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15818633
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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