A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11094681



Internal ID913827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:107130511..107146281hg38UCSC Ensembl
Innerchr3:107130511..107146281hg38UCSC Ensembl
Outerchr3:107130437..107146352hg38UCSC Ensembl
chr3:106849358..106865128hg19UCSC Ensembl
Innerchr3:106849358..106865128hg19UCSC Ensembl
Outerchr3:106849284..106865199hg19UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg3815771
hg1915771
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597302
Supporting Variants
SamplesHG00536
Known GenesLINC00882
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11094681
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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