A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762823



Internal ID10375621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:97321590..97343500hg38UCSC Ensembl
Innerchr9:100083872..100105782hg19UCSC Ensembl
Innerchr9:99123693..99145603hg18UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg3821911
hg1921911
hg1821911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017950
SamplesRW_0297
Known GenesCCDC180, LOC100499484-C9ORF174
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)esv2762823
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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