A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007699



Internal ID10333762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75332498..75418076hg38UCSC Ensembl
Innerchr2:75559624..75645202hg19UCSC Ensembl
Innerchr2:75413132..75498710hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3885579
hg1985579
hg1885579
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762263
Supporting Variants
SamplesRW_0058
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)essv7007699
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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