A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6991914



Internal ID10360779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144220508..144280299hg38UCSC Ensembl
Innerchr7:143917601..143977392hg19UCSC Ensembl
Innerchr7:143548534..143608325hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3859792
hg1959792
hg1859792
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764030
Supporting Variants
SamplesSW_0844
Known GenesARHGEF34P, CTAGE4, CTAGE8, OR2A1, OR2A20P, OR2A42, OR2A7, OR2A9P
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)essv6991914
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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