A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006501



Internal ID10339769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155210569..155231273hg38UCSC Ensembl
Innerchr1:155180360..155201064hg19UCSC Ensembl
Innerchr1:153446984..153467688hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3820705
hg1920705
hg1820705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764209
Supporting Variants
SamplesRW_0208
Known GenesGBAP1, MTX1
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)essv7006501
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