A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15802980



Internal ID398153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9999797..10121977hg38UCSC Ensembl
chr18:9999794..10121974hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38122181
hg19122181
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641760
Supporting Variants
SamplesHG00117
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15802980
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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