A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7028400



Internal ID10025335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195656271..195730018hg38UCSC Ensembl
Innerchr3:195383142..195456889hg19UCSC Ensembl
Innerchr3:196868323..196942560hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3873748
hg1973748
hg1874238
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763776
Supporting Variants
SamplesSW_1428
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)essv7028400
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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