A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15906729



Internal ID4156894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63643736..63659432hg38UCSC Ensembl
chr18:61310970..61326666hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3815697
hg1915697
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642779
Supporting Variants
SamplesHG03760
Known GenesSERPINB3, SERPINB4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15906729
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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