A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014754



Internal ID10332498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:63792452..63854094hg38UCSC Ensembl
Innerchr7:63252830..63314472hg19UCSC Ensembl
Innerchr7:62890265..62951907hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3861643
hg1961643
hg1861643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761080
Supporting Variants
SamplesRW_0023
Known Genes
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)essv7014754
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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