A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764142



Internal ID10378178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:30419944..30592523hg38UCSC Ensembl
Innerchr9:30419942..30592521hg19UCSC Ensembl
Innerchr9:30409942..30582521hg18UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38172580
hg19172580
hg18172580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993874, essv6993876, essv6993875
SamplesSW_0146, SW_0076, SW_0857
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)esv2764142
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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