A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11107397



Internal ID1109213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114256209..114297720hg38UCSC Ensembl
chr3:113975056..114016567hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3841512
hg1941512
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597453
Supporting Variants
SamplesHG04180
Known GenesTIGIT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11107397
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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