A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763101



Internal ID10375781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212383594..212425811hg38UCSC Ensembl
Innerchr2:213248318..213290535hg19UCSC Ensembl
Innerchr2:212956563..212998780hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3842218
hg1942218
hg1842218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023300
SamplesSW_1392
Known GenesERBB4
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)esv2763101
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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