A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014456



Internal ID10357171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56159521..56195313hg38UCSC Ensembl
Innerchr2:56386656..56422448hg19UCSC Ensembl
Innerchr2:56240160..56275952hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3835793
hg1935793
hg1835793
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762648
Supporting Variants
SamplesSW_0589
Known GenesCCDC85A
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)essv7014456
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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