A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7016070



Internal ID10350159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12092042..12145208hg38UCSC Ensembl
Innerchr8:11949551..12002717hg19UCSC Ensembl
Innerchr8:11986960..12040126hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3853167
hg1953167
hg1853167
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761239
Supporting Variants
SamplesRW_0632
Known GenesFAM66D, LOC392196, USP17L2, USP17L7, ZNF705D
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)essv7016070
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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