A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760690



Internal ID10376997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:26643879..26654193hg38UCSC Ensembl
Innerchr21:28016198..28026512hg19UCSC Ensembl
Innerchr21:26938069..26948383hg18UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3810315
hg1910315
hg1810315
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026542, essv7026538, essv7026537, essv7026540, essv7026539, essv7026541
SamplesRW_0566, RW_0658, RW_0546, RW_0253, RW_0155, RW_0072
Known Genes
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)esv2760690
Frequency
Sample Size1109
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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