A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11116289



Internal ID3539464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119426261..119432193hg38UCSC Ensembl
Innerchr3:119426317..119432138hg38UCSC Ensembl
Outerchr3:119426206..119432249hg38UCSC Ensembl
chr3:119145108..119151040hg19UCSC Ensembl
Innerchr3:119145164..119150985hg19UCSC Ensembl
Outerchr3:119145053..119151096hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg385933
hg195933
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597558
Supporting Variants
SamplesHG03127
Known GenesTMEM39A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11116289
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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