A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005372



Internal ID10348880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:38946430..38965465hg38UCSC Ensembl
Innerchr1:39412102..39431137hg19UCSC Ensembl
Innerchr1:39184689..39203724hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3819036
hg1919036
hg1819036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764196
Supporting Variants
SamplesRW_0602
Known Genes
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)essv7005372
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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