A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11228993



Internal ID3449223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:173852504..173860858hg38UCSC Ensembl
chr3:173570294..173578648hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg388355
hg198355
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598709
Supporting Variants
SamplesHG03077
Known GenesNLGN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11228993
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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