A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7015412



Internal ID10024291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87320178..88011471hg38UCSC Ensembl
Innerchr2:87547301..88310990hg19UCSC Ensembl
Innerchr2:87400812..88092105hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38691294
hg19763690
hg18691294
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763649
Supporting Variants
SamplesSW_1381
Known GenesLINC00152, MIR4435-1, MIR4435-2, 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)essv7015412
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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