A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16189422



Internal ID6191238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:42655671..42715083hg38UCSC Ensembl
chr20:41284311..41343723hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3859413
hg1959413
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645869
Supporting Variants
SamplesNA12004
Known GenesPTPRT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16189422
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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