A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760104



Internal ID10376412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:26390619..26404195hg38UCSC Ensembl
Innerchr10:26679548..26693124hg19UCSC Ensembl
Innerchr10:26719554..26733130hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3813577
hg1913577
hg1813577
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018245, essv7018251, essv7018253, essv7018249, essv7018247, essv7018254, essv7018248, essv7018246, essv7018252, essv7018250
SamplesRW_0178, RW_0189, RW_0025, RW_0254, RW_0218, RW_0103, RW_0171, RW_0077, RW_0211, RW_0234
Known Genes
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)esv2760104
Frequency
Sample Size1109
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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