A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762149



Internal ID10029499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70949452..70993290hg38UCSC Ensembl
Innerchr1:71415135..71458973hg19UCSC Ensembl
Innerchr1:71187723..71231561hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3843839
hg1943839
hg1843839
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005413
SamplesRW_0212
Known GenesPTGER3
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)esv2762149
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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