A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007908



Internal ID10332920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:100547270..100556728hg38UCSC Ensembl
Innerchr2:101163732..101173190hg19UCSC Ensembl
Innerchr2:100530164..100539622hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg389459
hg199459
hg189459
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762269
Supporting Variants
SamplesRW_0032
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)essv7007908
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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