A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994391



Internal ID10020657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:1184503..1299763hg38UCSC Ensembl
Innerchr10:1230443..1341958hg19UCSC Ensembl
Innerchr10:1220443..1331958hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38115261
hg19111516
hg18111516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761563
Supporting Variants
SamplesSW_1217
Known GenesADARB2
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)essv6994391
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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