A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018236



Internal ID9991942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:25189395..25207224hg38UCSC Ensembl
Innerchr10:25478324..25496153hg19UCSC Ensembl
Innerchr10:25518330..25536159hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3817830
hg1917830
hg1817830
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760160
Supporting Variants
SamplesRW_0184
Known GenesGPR158
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)essv7018236
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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