A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604012



Internal ID6991042
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11813936, essv11813943, essv11813939, essv11813941, essv11813944, essv11813940, essv11813937, essv11813942, essv11813945, essv11813938
SamplesHG00559, NA18960, HG00530, HG01841, HG00500, HG01852, NA18570, NA18543, HG02373, HG00446
Known GenesCTNND2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604012
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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