A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764041



Internal ID10378077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:111278657..111755334hg38UCSC Ensembl
Innerchr7:110918713..111395390hg19UCSC Ensembl
Innerchr7:110705949..111182626hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38476678
hg19476678
hg18476678
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6991106, essv6991103, essv6991107, essv6991109, essv6991114, essv6991111, essv6991102, essv6991115, essv6991113, essv6991110, essv6991108, essv6991105, essv6991104
SamplesSW_0370, SW_0813, SW_1377, SW_1108, SW_1170, SW_0046, SW_0874, SW_1269, SW_1028, SW_1527, SW_0368, SW_1341, SW_1137
Known GenesDOCK4, IMMP2L
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)esv2764041
Frequency
Sample Size1109
Observed Gain1
Observed Loss12
Observed Complex0
Frequencyn/a


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