A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761625



Internal ID10374423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:109049761..109217487hg38UCSC Ensembl
Innerchr10:110809519..110977245hg19UCSC Ensembl
Innerchr10:110799509..110967235hg18UCSC Ensembl
Cytoband10q25.1
Allele length
AssemblyAllele length
hg38167727
hg19167727
hg18167727
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995222
SamplesSW_0270
Known GenesRNU6-53P
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)esv2761625
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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