A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006155



Internal ID10360401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243000540..243064845hg38UCSC Ensembl
Innerchr1:243163842..243228147hg19UCSC Ensembl
Innerchr1:241230465..241294770hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3864306
hg1964306
hg1864306
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763747
Supporting Variants
SamplesSW_0831
Known GenesLOC731275
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)essv7006155
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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