A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11116295



Internal ID3862328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119505783..119509002hg38UCSC Ensembl
chr3:119224630..119227849hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg383220
hg193220
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597560
Supporting Variants
SamplesHG03491
Known GenesTIMMDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11116295
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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