A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763243



Internal ID10030593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32342270..33106711hg38UCSC Ensembl
Innerchr2:32567339..33331778hg19UCSC Ensembl
Innerchr2:32420843..33185282hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38764442
hg19764440
hg18764440
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7010989, essv7010978, essv7010967
SamplesSW_0816, SW_1508, SW_1270
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
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)esv2763243
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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