A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026920



Internal ID9990317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25333849..25585049hg38UCSC Ensembl
Innerchr22:25729816..25981016hg19UCSC Ensembl
Innerchr22:24059816..24311016hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38251201
hg19251201
hg18251201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760720
Supporting Variants
SamplesRW_0143
Known GenesADRBK2, CRYBB2P1, LRP5L, MIR6817
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)essv7026920
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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