A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005888



Internal ID10001433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:107712903..107727508hg38UCSC Ensembl
Innerchr1:108255525..108270130hg19UCSC Ensembl
Innerchr1:108057048..108071653hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3814606
hg1914606
hg1814606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764218
Supporting Variants
SamplesRW_0583
Known GenesVAV3
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)essv7005888
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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