A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7015155



Internal ID10012615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86893372..87725148hg38UCSC Ensembl
Innerchr2:87120495..88024667hg19UCSC Ensembl
Innerchr2:86974006..87805782hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38831777
hg19904173
hg18831777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763649
Supporting Variants
SamplesSW_0760
Known GenesANAPC1P1, LINC00152, LOC285074, MIR4435-1, MIR4435-2, MIR4771-1, MIR4771-2, PLGLB1, PLGLB2, RGPD1, RGPD2
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)essv7015155
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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