A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764057



Internal ID10378093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:4310055..4492246hg38UCSC Ensembl
Innerchr7:4349686..4531877hg19UCSC Ensembl
Innerchr7:4316212..4498403hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38182192
hg19182192
hg18182192
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7033354, essv7033357, essv7033355
SamplesSW_1109, SW_1357, SW_0203
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)esv2764057
Frequency
Sample Size1109
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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