A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760999



Internal ID10028361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11018238..11123437hg38UCSC Ensembl
Innerchr12:11170837..11276036hg19UCSC Ensembl
Innerchr12:11062104..11167303hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38105200
hg19105200
hg18105200
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6996875, essv6996883, essv6996876, essv6996880, essv6996877, essv6996879, essv6996882, essv6996881
SamplesSW_0286, SW_1150, SW_0175, SW_0691, SW_0888, SW_1104, SW_0269, SW_0100
Known GenesPRH1-PRR4, TAS2R19, TAS2R31, TAS2R43, TAS2R46
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)esv2760999
Frequency
Sample Size1109
Observed Gain1
Observed Loss7
Observed Complex0
Frequencyn/a


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