A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760592



Internal ID10376899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105895267..105930810hg38UCSC Ensembl
Innerchr2:106511723..106547266hg19UCSC Ensembl
Innerchr2:105878155..105913698hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3835544
hg1935544
hg1835544
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007910, essv7007912, essv7007913
SamplesRW_0323, RW_0010, RW_0080
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)esv2760592
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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