A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761268



Internal ID10028630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:27195854..27291263hg38UCSC Ensembl
Innerchr9:27195852..27291261hg19UCSC Ensembl
Innerchr9:27185852..27281261hg18UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg3895410
hg1995410
hg1895410
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017644, essv7017643
SamplesRW_0617, RW_0128
Known GenesEQTN, LINC00032, TEK
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)esv2761268
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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