A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026415



Internal ID10340946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13074391..13177644hg38UCSC Ensembl
Innerchr21:14446712..14549965hg19UCSC Ensembl
Innerchr21:13368583..13471836hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38103254
hg19103254
hg18103254
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760689
Supporting Variants
SamplesRW_0231
Known GenesANKRD30BP2
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)essv7026415
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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