A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004284



Internal ID10372658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13710595..13780941hg38UCSC Ensembl
Innerchr21:15082916..15153262hg19UCSC Ensembl
Innerchr21:14004787..14075133hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3870347
hg1970347
hg1870347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763688
Supporting Variants
SamplesSW_1452
Known GenesMIR8069
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)essv7004284
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer