A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761305



Internal ID10377612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:16859573..16875812hg38UCSC Ensembl
Innerchr7:16899197..16915436hg19UCSC Ensembl
Innerchr7:16865722..16881961hg18UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3816240
hg1916240
hg1816240
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990765
SamplesSW_0844
Known GenesAGR3
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)esv2761305
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