A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11813938



Internal ID902843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11128079..11135396hg38UCSC Ensembl
Innerchr5:11128579..11134896hg38UCSC Ensembl
Outerchr5:11127079..11136396hg38UCSC Ensembl
chr5:11128191..11135508hg19UCSC Ensembl
Innerchr5:11128691..11135008hg19UCSC Ensembl
Outerchr5:11127191..11136508hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg387318
hg197318
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604012
Supporting Variants
SamplesHG00530
Known GenesCTNND2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11813938
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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