A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4257n223



Internal ID22807225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202429001..202448200hg38UCSC Ensembl
chr2:203293724..203312923hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3819200
hg1919200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6341104, nsv6347840
Samples
Known GenesBMPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4257n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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