A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761525



Internal ID10028878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:33722595..33820316hg38UCSC Ensembl
Innerchr9:33722593..33820314hg19UCSC Ensembl
Innerchr9:33712593..33810314hg18UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg3897722
hg1997722
hg1897722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993885
SamplesSW_1162
Known GenesLOC101929688, PRSS3, UBE2R2
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)esv2761525
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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