A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014700



Internal ID10366637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:63996218..64054203hg38UCSC Ensembl
Innerchr2:64223352..64281337hg19UCSC Ensembl
Innerchr2:64076856..64134841hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3857986
hg1957986
hg1857986
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763643
Supporting Variants
SamplesSW_1190
Known GenesVPS54
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)essv7014700
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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