A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004263



Internal ID10016174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10469611..10559033hg38UCSC Ensembl
Innerchr21:10953424..11042846hg19UCSC Ensembl
Innerchr21:9975295..10064717hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3889423
hg1989423
hg1889423
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763681
Supporting Variants
SamplesSW_1054
Known GenesBAGE2, BAGE3, BAGE4, BAGE5, TPTE
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)essv7004263
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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