A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13186099



Internal ID405478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:43093633..43124177hg38UCSC Ensembl
chr8:42948776..42979320hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3830545
hg1930545
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617027
Supporting Variants
SamplesHG00120
Known GenesPOMK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13186099
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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