A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993497



Internal ID10021928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:177057..272950hg38UCSC Ensembl
Innerchr9:177057..272950hg19UCSC Ensembl
Innerchr9:167057..262950hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3895894
hg1995894
hg1895894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764172
Supporting Variants
SamplesSW_1274
Known GenesC9orf66, CBWD1, DOCK8
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)essv6993497
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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