A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597582



Internal ID6984721
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv929e214
Supporting Variantsessv11122207, essv11122206, essv11122205
SamplesHG03123, HG02317, HG02947
Known GenesSTXBP5L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597582
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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