A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16189425



Internal ID6191241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:42657577..42709598hg38UCSC Ensembl
Innerchr20:42657577..42709598hg38UCSC Ensembl
Outerchr20:42657077..42710098hg38UCSC Ensembl
chr20:41286217..41338238hg19UCSC Ensembl
Innerchr20:41286217..41338238hg19UCSC Ensembl
Outerchr20:41285717..41338738hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3852022
hg1952022
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645870
Supporting Variants
SamplesNA21098
Known GenesPTPRT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16189425
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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