A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760832



Internal ID10028194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52294900..52389052hg38UCSC Ensembl
Innerchr12:52688684..52782836hg19UCSC Ensembl
Innerchr12:50974951..51069103hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3894153
hg1994153
hg1894153
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997397, essv6997398, essv6997396
SamplesSW_1373, SW_0623, SW_1436
Known GenesKRT83, KRT84, KRT85, KRT86
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)esv2760832
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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