A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760268



Internal ID10376576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39909703..39923841hg38UCSC Ensembl
Innerchr12:40303505..40317643hg19UCSC Ensembl
Innerchr12:38589772..38603910hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3814139
hg1914139
hg1814139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020934, essv7020926, essv7020931, essv7020927, essv7020930, essv7020929, essv7020925, essv7020928, essv7020932
SamplesRW_0356, RW_0345, RW_0640, RW_0568, RW_0118, RW_0596, RW_0276, RW_0126, RW_0229
Known GenesSLC2A13
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)esv2760268
Frequency
Sample Size1109
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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