A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15932068



Internal ID554873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:71345276..71584005hg38UCSC Ensembl
chr18:69012512..69251241hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38238730
hg19238730
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643017
Supporting Variants
SamplesHG00242
Known GenesLOC100505776
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15932068
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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