A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760155



Internal ID10027518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44707669..44876329hg38UCSC Ensembl
Innerchr10:45203117..45371777hg19UCSC Ensembl
Innerchr10:44523123..44691783hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38168661
hg19168661
hg18168661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994660, essv6994662, essv6994661, essv6994663, essv6994658, essv6994659
SamplesSW_1205, SW_0009, SW_1026, SW_1104, SW_1414, SW_0832
Known GenesTMEM72-AS1
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)esv2760155
Frequency
Sample Size1109
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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