A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764203



Internal ID10378239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:232126268..232134451hg38UCSC Ensembl
Innerchr1:232262014..232270197hg19UCSC Ensembl
Innerchr1:230328637..230336820hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg388184
hg198184
hg188184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007010, essv7007012, essv7007013
SamplesRW_0100, RW_0522, RW_0541
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)esv2764203
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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