A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760258



Internal ID10027621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:759943..776028hg38UCSC Ensembl
Innerchr12:869109..885194hg19UCSC Ensembl
Innerchr12:739370..755455hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3816086
hg1916086
hg1816086
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020328, essv7020335, essv7020334, essv7020327, essv7020326, essv7020330, essv7020332, essv7020325, essv7020331, essv7020329, essv7020336
SamplesRW_0104, RW_0322, RW_0049, RW_0304, RW_0161, RW_0118, RW_0005, RW_0567, RW_0193, RW_0088, RW_0574
Known GenesWNK1
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)esv2760258
Frequency
Sample Size1109
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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