A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004262



Internal ID10022396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10494350..10559033hg38UCSC Ensembl
Innerchr21:10953424..11018107hg19UCSC Ensembl
Innerchr21:9975295..10039978hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3864684
hg1964684
hg1864684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763681
Supporting Variants
SamplesSW_1290
Known GenesTPTE
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)essv7004262
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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