A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018949



Internal ID9995702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133121116..133286029hg38UCSC Ensembl
Innerchr10:134934620..135099533hg19UCSC Ensembl
Innerchr10:134784610..134949523hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38164914
hg19164914
hg18164914
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760107
Supporting Variants
SamplesRW_0269
Known GenesADAM8, GPR123, KNDC1, MIR202, MIR202HG, TUBGCP2, UTF1, VENTX
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)essv7018949
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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