A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7028388



Internal ID10005663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195656271..195728637hg38UCSC Ensembl
Innerchr3:195383142..195455508hg19UCSC Ensembl
Innerchr3:196868323..196941179hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3872367
hg1972367
hg1872857
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763776
Supporting Variants
SamplesSW_0045
Known GenesMIR570, MUC20, SDHAP2
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)essv7028388
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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