A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990884



Internal ID10355912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65696403..65886833hg38UCSC Ensembl
Innerchr7:65161376..65351820hg19UCSC Ensembl
Innerchr7:64798811..64989255hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38190431
hg19190445
hg18190445
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764020
Supporting Variants
SamplesSW_0311
Known GenesCCT6P1, INTS4L2, LOC441242, SNORA22, VKORC1L1
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)essv6990884
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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