A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6991982



Internal ID10359064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:159293192..159334314hg38UCSC Ensembl
Innerchr7:159085881..159127004hg19UCSC Ensembl
Innerchr7:158778642..158819765hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3841123
hg1941124
hg1841124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763998
Supporting Variants
SamplesSW_0715
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)essv6991982
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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