A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761289



Internal ID10028651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69413554..69434688hg38UCSC Ensembl
Innerchr9:72028470..72049604hg19UCSC Ensembl
Innerchr9:71218290..71239424hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3821135
hg1921135
hg1821135
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017846, essv7017848, essv7017849, essv7017850, essv7017840, essv7017842, essv7017841, essv7017845, essv7017847, essv7017839, essv7017843, essv7017851, essv7017837, essv7017852, essv7017838
SamplesRW_0220, RW_0129, RW_0218, RW_0510, RW_0567, RW_0620, RW_0577, RW_0144, RW_0529, RW_0057, RW_0637, RW_0550, RW_0175, RW_0625, RW_0006
Known GenesAPBA1
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)esv2761289
Frequency
Sample Size1109
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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