A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11122211



Internal ID4936063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120918142..120921976hg38UCSC Ensembl
chr3:120636989..120640823hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg383835
hg193835
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597584
Supporting Variants
SamplesNA12777
Known GenesSTXBP5L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11122211
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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