A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764020



Internal ID10378056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65133687..65886833hg38UCSC Ensembl
Innerchr7:64594065..65351820hg19UCSC Ensembl
Innerchr7:64231500..64989255hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38753147
hg19757756
hg18757756
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990876, essv6990881, essv6990883, essv6990871, essv6990873, essv6990867, essv6990878, essv6990874, essv6990884, essv6990872, essv6990866, essv6990877, essv6990875, essv6990870, essv6990882, essv6990869, essv6990880
SamplesSW_0831, SW_1021, SW_0835, SW_1023, SW_0311, SW_0869, SW_1413, SW_0785, SW_0295, SW_1404, SW_0861, SW_1438, SW_0855, SW_0606, SW_0822, SW_0836, SW_0837
Known GenesCCT6P1, INTS4L2, LOC441242, SNORA22, VKORC1L1, ZNF92
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)esv2764020
Frequency
Sample Size1109
Observed Gain6
Observed Loss11
Observed Complex0
Frequencyn/a


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