A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764237



Internal ID10378273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223446392..223472019hg38UCSC Ensembl
Innerchr1:223619734..223645361hg19UCSC Ensembl
Innerchr1:221686357..221711984hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3825628
hg1925628
hg1825628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7006995, essv7006996, essv7006997, essv7006998, essv7006994
SamplesRW_0644, RW_0504, RW_0121, RW_0631, RW_0500
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)esv2764237
Frequency
Sample Size1109
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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