A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994649



Internal ID10372227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:42118988..42358254hg38UCSC Ensembl
Innerchr10:42614436..42853702hg19UCSC Ensembl
Innerchr10:41934442..42173708hg18UCSC Ensembl
Cytoband10q11.1
Allele length
AssemblyAllele length
hg38239267
hg19239267
hg18239267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760078
Supporting Variants
SamplesSW_1436
Known GenesLOC441666
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)essv6994649
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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