A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762709



Internal ID10030059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148366555..148372970hg38UCSC Ensembl
Innerchr7:148063647..148070062hg19UCSC Ensembl
Innerchr7:147694580..147700995hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg386416
hg196416
hg186416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7015531
SamplesRW_0008
Known GenesCNTNAP2
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)esv2762709
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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