A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14290126



Internal ID4291942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:115295545..115341460hg38UCSC Ensembl
Innerchr11:115296045..115340960hg38UCSC Ensembl
Outerchr11:115294545..115342460hg38UCSC Ensembl
chr11:115166265..115212179hg19UCSC Ensembl
Innerchr11:115166765..115211679hg19UCSC Ensembl
Outerchr11:115165265..115213179hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3845916
hg1945915
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627810
Supporting Variants
SamplesHG00693
Known GenesCADM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14290126
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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