A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764150



Internal ID10031500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:20659506..22349184hg38UCSC Ensembl
Innerchr9:20659505..22349183hg19UCSC Ensembl
Innerchr9:20649505..22339183hg18UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg381689679
hg191689679
hg181689679
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993666, essv6993663, essv6993668, essv6993665, essv6993664
SamplesSW_1171, SW_0833, SW_1340, SW_0632, SW_0102
Known GenesC9orf53, CDKN2A, CDKN2B, CDKN2B-AS1, FOCAD, IFNA1, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA2, IFNA21, IFNA22P, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNB1, IFNE, IFNW1, KLHL9, MIR31, MIR31HG, MIR491, MTAP, PTPLAD2
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)esv2764150
Frequency
Sample Size1109
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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