A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994340



Internal ID10015718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:94263016..94594668hg38UCSC Ensembl
Innerchr9:97025298..97356950hg19UCSC Ensembl
Innerchr9:96065119..96396771hg18UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38331653
hg19331653
hg18331653
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761545
Supporting Variants
SamplesSW_1038
Known GenesFBP2, HIATL1, LOC100132077, NUTM2F, ZNF169
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)essv6994340
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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