A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7017853



Internal ID9990328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69482739..69501890hg38UCSC Ensembl
Innerchr9:72097655..72116806hg19UCSC Ensembl
Innerchr9:71287475..71306626hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3819152
hg1919152
hg1819152
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761265
Supporting Variants
SamplesRW_0143
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)essv7017853
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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