A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13981587



Internal ID3983403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:131918594..131941935hg38UCSC Ensembl
chr10:133732098..133755439hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3823342
hg1923342
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624979
Supporting Variants
SamplesNA19428
Known GenesPPP2R2D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13981587
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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