A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763488



Internal ID10376168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:167306626..167324930hg38UCSC Ensembl
Innerchr2:168163136..168181440hg19UCSC Ensembl
Innerchr2:167871382..167889686hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3818305
hg1918305
hg1818305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020311, essv7020333, essv7020288, essv7020344, essv7020300, essv7020322, essv7020355
SamplesSW_0639, SW_0786, SW_1358, SW_0073, SW_0019, SW_1543, SW_1475
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)esv2763488
Frequency
Sample Size1109
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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