A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026624



Internal ID9989901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15771752..15875621hg38UCSC Ensembl
Innerchr22:16102342..16206211hg19UCSC Ensembl
Innerchr22:14482342..14586211hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38103870
hg19103870
hg18103870
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760727
Supporting Variants
SamplesRW_0132
Known GenesBMS1P17, BMS1P18
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)essv7026624
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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