A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007885



Internal ID10343137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97043979..97348019hg38UCSC Ensembl
Innerchr2:97709716..98025647hg19UCSC Ensembl
Innerchr2:97073443..97391786hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38304041
hg19315932
hg18318344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760609
Supporting Variants
SamplesRW_0289
Known GenesANKRD36, FAHD2B, LOC100506076, LOC100506123
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)essv7007885
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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