A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763627



Internal ID10376307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:200369849..200375582hg38UCSC Ensembl
Innerchr2:201234572..201240305hg19UCSC Ensembl
Innerchr2:200942817..200948550hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385734
hg195734
hg185734
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021867, essv7021856
SamplesSW_0311, SW_0165
Known GenesSPATS2L
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)esv2763627
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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