A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14250753



Internal ID5961342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:99921931..100008813hg38UCSC Ensembl
chr11:99792663..99879545hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3886883
hg1986883
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627472
Supporting Variants
SamplesNA19377
Known GenesCNTN5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14250753
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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