A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993079



Internal ID10022820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109681762..109710508hg38UCSC Ensembl
Innerchr1:110224384..110253130hg19UCSC Ensembl
Innerchr1:110025907..110054653hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3828747
hg1928747
hg1828747
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763824
Supporting Variants
SamplesSW_1308
Known GenesGSTM1, GSTM2
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)essv6993079
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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