A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004781



Internal ID10020533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38963910..39034450hg38UCSC Ensembl
Innerchr22:39359915..39430455hg19UCSC Ensembl
Innerchr22:37689861..37760401hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3870541
hg1970541
hg1870541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763703
Supporting Variants
SamplesSW_1212
Known GenesAPOBEC3A_B, APOBEC3B, APOBEC3B-AS1, APOBEC3C, APOBEC3D
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7004781
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer