A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv119n172



Internal ID22814493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:980060..980624hg38UCSC Ensembl
chr11:980060..980624hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38565
hg19565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4431613, nsv4431614, nsv4431611, nsv4431612
SamplesNB12, NB08, NB10, NB09
Known GenesAP2A2
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv119n172
Frequency
Sample Size15
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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