A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6991951



Internal ID10354147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147009967..147091133hg38UCSC Ensembl
Innerchr7:146707059..146788225hg19UCSC Ensembl
Innerchr7:146337992..146419158hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3881167
hg1981167
hg1881167
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761380
Supporting Variants
SamplesSW_0159
Known GenesCNTNAP2
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)essv6991951
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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