A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992637



Internal ID10363334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374772..12412203hg38UCSC Ensembl
Innerchr8:12232281..12269712hg19UCSC Ensembl
Innerchr8:12276652..12314083hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3837432
hg1937432
hg1837432
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764095
Supporting Variants
SamplesSW_1070
Known GenesDEFB109P1, FAM66A, LOC649352
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)essv6992637
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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