A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7015323



Internal ID10012438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87146770..87674944hg38UCSC Ensembl
Innerchr2:87373893..87974463hg19UCSC Ensembl
Innerchr2:87227404..87755578hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38528175
hg19600571
hg18528175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763649
Supporting Variants
SamplesSW_0717
Known GenesLINC00152, MIR4435-1, MIR4435-2, MIR4771-1, MIR4771-2
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)essv7015323
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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