A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990900



Internal ID10023754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75733372..75875518hg38UCSC Ensembl
Innerchr7:75362690..75504836hg19UCSC Ensembl
Innerchr7:75200626..75342772hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38142147
hg19142147
hg18142147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764051
Supporting Variants
SamplesSW_1357
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)essv6990900
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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