A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764218



Internal ID10031568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:107707660..107727508hg38UCSC Ensembl
Innerchr1:108250282..108270130hg19UCSC Ensembl
Innerchr1:108051805..108071653hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3819849
hg1919849
hg1819849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005887, essv7005888, essv7005886
SamplesRW_0269, RW_0021, RW_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)esv2764218
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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