A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006728



Internal ID9999397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186354747..186596875hg38UCSC Ensembl
Innerchr1:186323879..186566007hg19UCSC Ensembl
Innerchr1:184590502..184832630hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38242129
hg19242129
hg18242129
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762201
Supporting Variants
SamplesRW_0527
Known GenesC1orf27, MIR548F1, OCLM, PDC, TPR
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)essv7006728
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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