A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598885



Internal ID6972403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181156706..181161017hg38UCSC Ensembl
Innerchr3:181157206..181160517hg38UCSC Ensembl
Outerchr3:181155706..181162017hg38UCSC Ensembl
chr3:180874494..180878805hg19UCSC Ensembl
Innerchr3:180874994..180878305hg19UCSC Ensembl
Outerchr3:180873494..180879805hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg384312
hg194312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11251148, essv11251149
SamplesHG03978, NA06985
Known GenesSOX2-OT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598885
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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