A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760121



Internal ID10376429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:10615213..10619314hg38UCSC Ensembl
Innerchr10:10657176..10661277hg19UCSC Ensembl
Innerchr10:10697182..10701283hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg384102
hg194102
hg184102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018162, essv7018158, essv7018160, essv7018164, essv7018163, essv7018159, essv7018161
SamplesRW_0196, RW_0187, RW_0629, RW_0558, RW_0020, RW_0201, RW_0229
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)esv2760121
Frequency
Sample Size1109
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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