A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14292705



Internal ID4721074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117548685..117549882hg38UCSC Ensembl
Innerchr11:117548685..117549882hg38UCSC Ensembl
Outerchr11:117548538..117550092hg38UCSC Ensembl
chr11:117419400..117420597hg19UCSC Ensembl
Innerchr11:117419400..117420597hg19UCSC Ensembl
Outerchr11:117419253..117420807hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381198
hg191198
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627857
Supporting Variants
SamplesNA06984
Known GenesDSCAML1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14292705
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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