A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv130n206



Internal ID22755434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52486000..52578253hg38UCSC Ensembl
chr13:53060135..53152388hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3892254
hg1992254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5509955, nsv6144226
Samples
Known GenesTPTE2P3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv130n206
Frequency
Sample Size3202
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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