A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11814103



Internal ID4252262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11165930..11176978hg38UCSC Ensembl
Innerchr5:11165930..11176978hg38UCSC Ensembl
Outerchr5:11165641..11177139hg38UCSC Ensembl
chr5:11166042..11177090hg19UCSC Ensembl
Innerchr5:11166042..11177090hg19UCSC Ensembl
Outerchr5:11165753..11177251hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3811049
hg1911049
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604016
Supporting Variants
SamplesHG03823
Known GenesCTNND2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11814103
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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