A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645854



Internal ID6685915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:41990301..42118491hg38UCSC Ensembl
chr20:40618941..40747131hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38128191
hg19128191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16189262
SamplesHG02053
Known GenesPTPRT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645854
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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