A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7028013



Internal ID10366462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70839424..70848774hg38UCSC Ensembl
Innerchr1:71305107..71314457hg19UCSC Ensembl
Innerchr1:71077695..71087045hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg389351
hg199351
hg189351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763076
Supporting Variants
SamplesSW_1182
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)essv7028013
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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