A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995150



Internal ID10358762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:87237542..87348659hg38UCSC Ensembl
Innerchr10:88997299..89108416hg19UCSC Ensembl
Innerchr10:88987279..89098396hg18UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38111118
hg19111118
hg18111118
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764246
Supporting Variants
SamplesSW_0675
Known GenesLOC439994, NUTM2A-AS1
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)essv6995150
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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