A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14320171



Internal ID6502874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133841122..133876222hg38UCSC Ensembl
chr11:133711017..133746117hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3835101
hg1935101
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628160
Supporting Variants
SamplesNA20534
Known GenesSPATA19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14320171
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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