A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6991799



Internal ID10366735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143117686..143194628hg38UCSC Ensembl
Innerchr7:142814779..142891721hg19UCSC Ensembl
Innerchr7:142524901..142601843hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3876943
hg1976943
hg1876943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764005
Supporting Variants
SamplesSW_1194
Known GenesPIP, TAS2R39
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)essv6991799
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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