A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598895



Internal ID6972413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181659779..181660878hg38UCSC Ensembl
Innerchr3:181659797..181660861hg38UCSC Ensembl
Outerchr3:181659762..181660896hg38UCSC Ensembl
chr3:181377567..181378666hg19UCSC Ensembl
Innerchr3:181377585..181378649hg19UCSC Ensembl
Outerchr3:181377550..181378684hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11251216, essv11251217
SamplesHG03476, HG03469
Known GenesSOX2-OT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598895
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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