A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764051



Internal ID10031401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75663839..75875518hg38UCSC Ensembl
Innerchr7:75293157..75504836hg19UCSC Ensembl
Innerchr7:75131093..75342772hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38211680
hg19211680
hg18211680
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990898, essv6990896, essv6990897, essv6990895, essv6990900, essv6990894, essv6990899
SamplesSW_1290, SW_1172, SW_1084, SW_1357, SW_0579, SW_0338, SW_1175
Known GenesCCL24, CCL26, HIP1
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)esv2764051
Frequency
Sample Size1109
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer