A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993666



Internal ID10019512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:21261447..21280472hg38UCSC Ensembl
Innerchr9:21261446..21280471hg19UCSC Ensembl
Innerchr9:21251446..21270471hg18UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3819026
hg1919026
hg1819026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764150
Supporting Variants
SamplesSW_1171
Known GenesIFNA22P
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)essv6993666
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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