A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11251188



Internal ID1472792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181331847..181338925hg38UCSC Ensembl
Innerchr3:181331847..181338925hg38UCSC Ensembl
Outerchr3:181331347..181339425hg38UCSC Ensembl
chr3:181049635..181056713hg19UCSC Ensembl
Innerchr3:181049635..181056713hg19UCSC Ensembl
Outerchr3:181049135..181057213hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg387079
hg197079
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598889
Supporting Variants
SamplesHG01359
Known GenesSOX2-OT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11251188
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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