A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760635



Internal ID10376942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:234396415..234434149hg38UCSC Ensembl
Innerchr2:235305059..235342793hg19UCSC Ensembl
Innerchr2:234969798..235007532hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3837735
hg1937735
hg1837735
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008720, essv7008721
SamplesRW_0585, RW_0331
Known Genes
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)esv2760635
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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