A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762231



Internal ID10375029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:244329609..244374381hg38UCSC Ensembl
Innerchr1:244492911..244537683hg19UCSC Ensembl
Innerchr1:242559534..242604306hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3844773
hg1944773
hg1844773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007031
SamplesRW_0067
Known GenesC1orf100
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)esv2762231
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer