A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604016



Internal ID6991046
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1071e214
Supporting Variantsessv11814103, essv11814105, essv11814104, essv11814106, essv11814107
SamplesHG04001, HG04206, HG04180, HG03823, HG03886
Known GenesCTNND2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604016
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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