A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760660



Internal ID10028022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232378051..232409435hg38UCSC Ensembl
Innerchr2:233242761..233274145hg19UCSC Ensembl
Innerchr2:232951005..232982389hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3831385
hg1931385
hg1831385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008686, essv7008688, essv7008685, essv7008691, essv7008687, essv7008690
SamplesRW_0234, RW_0595, RW_0226, RW_0617, RW_0230, RW_0008
Known GenesALPP, ALPPL2, ECEL1P2
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)esv2760660
Frequency
Sample Size1109
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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