A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992505



Internal ID10371470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12176798..12698533hg38UCSC Ensembl
Innerchr8:12034307..12556042hg19UCSC Ensembl
Innerchr8:12071716..12600413hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38521736
hg19521736
hg18528698
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764095
Supporting Variants
SamplesSW_1405
Known GenesDEFB109P1, DEFB130, FAM66A, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC649352, LOC729732
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)essv6992505
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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