A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760125



Internal ID10027488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:28275066..28281670hg38UCSC Ensembl
Innerchr10:28563995..28570599hg19UCSC Ensembl
Innerchr10:28604001..28610605hg18UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg386605
hg196605
hg186605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018262, essv7018264, essv7018270, essv7018261, essv7018269, essv7018267, essv7018271, essv7018273, essv7018265, essv7018263, essv7018272, essv7018268
SamplesRW_0176, RW_0184, RW_0571, RW_0344, RW_0319, RW_0529, RW_0249, RW_0307, RW_0306, RW_0058, RW_0288, RW_0096
Known GenesMPP7
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)esv2760125
Frequency
Sample Size1109
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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