A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008055



Internal ID10356332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:3684956..3688948hg38UCSC Ensembl
Innerchr2:3732546..3736538hg19UCSC Ensembl
Innerchr2:3710421..3714413hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg383993
hg193993
hg183993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763276
Supporting Variants
SamplesSW_0375
Known GenesALLC
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)essv7008055
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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