A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763521



Internal ID10030871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59538932..59586394hg38UCSC Ensembl
Innerchr1:60004604..60052066hg19UCSC Ensembl
Innerchr1:59777192..59824654hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3847463
hg1947463
hg1847463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027946, essv7027935, essv7027924
SamplesSW_1398, SW_1121, SW_0165
Known GenesFGGY
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)esv2763521
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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