A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11116299



Internal ID1118115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119505783..119509002hg38UCSC Ensembl
chr3:119224630..119227849hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg383220
hg193220
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597561
Supporting Variants
SamplesHG03919
Known GenesTIMMDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11116299
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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