A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992449



Internal ID10367871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12130217..12144469hg38UCSC Ensembl
Innerchr8:11987726..12001978hg19UCSC Ensembl
Innerchr8:12025135..12039387hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3814253
hg1914253
hg1814253
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764095
Supporting Variants
SamplesSW_1242
Known GenesFAM66D, USP17L2, USP17L7
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)essv6992449
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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