A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004756



Internal ID10372257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196769493..196802150hg38UCSC Ensembl
Innerchr1:196738623..196771280hg19UCSC Ensembl
Innerchr1:195005246..195037903hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3832658
hg1932658
hg1832658
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760521
Supporting Variants
SamplesSW_1436
Known GenesCFHR3
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)essv7004756
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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