A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006952



Internal ID10334871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207150011..207172397hg38UCSC Ensembl
Innerchr1:207323356..207345742hg19UCSC Ensembl
Innerchr1:205389979..205412365hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3822387
hg1922387
hg1822387
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764240
Supporting Variants
SamplesRW_0090
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)essv7006952
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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