A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006926



Internal ID9997930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:197852639..197928366hg38UCSC Ensembl
Innerchr1:197821769..197897496hg19UCSC Ensembl
Innerchr1:196088392..196164119hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3875728
hg1975728
hg1875728
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762214
Supporting Variants
SamplesRW_0346
Known GenesC1orf53, LHX9
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)essv7006926
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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