A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995689



Internal ID10026836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148962618..149052186hg38UCSC Ensembl
Innerchr1:144832255..144921857hg19UCSC Ensembl
Innerchr1:143543612..143633214hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3889569
hg1989603
hg1889603
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761854
Supporting Variants
SamplesSW_1505
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP
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)essv6995689
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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