A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005373



Internal ID10340877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:48279401..48310271hg38UCSC Ensembl
Innerchr1:48745073..48775943hg19UCSC Ensembl
Innerchr1:48517660..48548530hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3830871
hg1930871
hg1830871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762139
Supporting Variants
SamplesRW_0230
Known GenesSPATA6
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)essv7005373
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