A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005844



Internal ID10005726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231790208..231819980hg38UCSC Ensembl
Innerchr1:231925954..231955726hg19UCSC Ensembl
Innerchr1:229992577..230022349hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3829773
hg1929773
hg1829773
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762173
Supporting Variants
SamplesSW_0047
Known GenesDISC1, DISC2, TSNAX-DISC1
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)essv7005844
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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