A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761265



Internal ID10028627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69482739..69505361hg38UCSC Ensembl
Innerchr9:72097655..72120277hg19UCSC Ensembl
Innerchr9:71287475..71310097hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3822623
hg1922623
hg1822623
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv165e203
Supporting Variantsessv7017861, essv7017860, essv7017863, essv7017853, essv7017854, essv7017859, essv7017862, essv7017857, essv7017858
SamplesRW_0169, RW_0025, RW_0319, RW_0640, RW_0334, RW_0503, RW_0643, RW_0143, RW_0593
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)esv2761265
Frequency
Sample Size1109
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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