A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018322



Internal ID10016792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132423798..132431666hg38UCSC Ensembl
Innerchr2:133181371..133189239hg19UCSC Ensembl
Innerchr2:132897841..132905709hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg387869
hg197869
hg187869
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763165
Supporting Variants
SamplesSW_1074
Known GenesGPR39
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)essv7018322
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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