A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026632



Internal ID9985160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15567168..15832502hg38UCSC Ensembl
Innerchr22:16145461..16410795hg19UCSC Ensembl
Innerchr22:14525461..14790795hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38265335
hg19265335
hg18265335
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760727
Supporting Variants
SamplesRW_0007
Known GenesBMS1P17, BMS1P18, POTEH
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)essv7026632
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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