A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14241757



Internal ID4243573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94167559..94177004hg38UCSC Ensembl
chr11:93900725..93910170hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg389446
hg199446
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627311
Supporting Variants
SamplesHG03397
Known GenesPANX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14241757
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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