A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11181327



Internal ID5529588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150425242..150429230hg38UCSC Ensembl
chr3:150143029..150147017hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg383989
hg193989
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598157
Supporting Variants
SamplesNA18997
Known GenesTSC22D2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11181327
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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