A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761519



Internal ID10374317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:30925081..30941222hg38UCSC Ensembl
Innerchr9:30925079..30941220hg19UCSC Ensembl
Innerchr9:30915079..30931220hg18UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg3816142
hg1916142
hg1816142
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993879
SamplesSW_1270
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)esv2761519
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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