A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760142



Internal ID10027505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:14930788..15024489hg38UCSC Ensembl
Innerchr10:14972787..15066488hg19UCSC Ensembl
Innerchr10:15012793..15106494hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3893702
hg1993702
hg1893702
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018182, essv7018183, essv7018180, essv7018185, essv7018179, essv7018181, essv7018175, essv7018186, essv7018176, essv7018184, essv7018178
SamplesRW_0348, RW_0099, RW_0359, RW_0503, RW_0603, RW_0637, RW_0648, RW_0221, RW_0279, RW_0085, RW_0535
Known GenesDCLRE1C, MEIG1
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)esv2760142
Frequency
Sample Size1109
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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