A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11251148



Internal ID4480881
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598885
Supporting Variants
SamplesHG03978
Known GenesSOX2-OT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11251148
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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