A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11871994



Internal ID1873810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39072365..39193316hg38UCSC Ensembl
chr5:39072467..39193418hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38120952
hg19120952
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604776
Supporting Variants
SamplesHG03479
Known GenesFYB, RICTOR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11871994
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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