A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11122207



Internal ID3530318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120917498..120922013hg38UCSC Ensembl
Innerchr3:120917507..120922004hg38UCSC Ensembl
Outerchr3:120917489..120922022hg38UCSC Ensembl
chr3:120636345..120640860hg19UCSC Ensembl
Innerchr3:120636354..120640851hg19UCSC Ensembl
Outerchr3:120636336..120640869hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg384516
hg194516
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597582
Supporting Variants
SamplesHG03123
Known GenesSTXBP5L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11122207
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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