A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6991944



Internal ID10361196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144249785..144343967hg38UCSC Ensembl
Innerchr7:143946878..144041060hg19UCSC Ensembl
Innerchr7:143577811..143671993hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3894183
hg1994183
hg1894183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764030
Supporting Variants
SamplesSW_0872
Known GenesARHGEF34P, CTAGE4, CTAGE8, OR2A1, OR2A20P, OR2A42, OR2A7, OR2A9P, RNU6-57P
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)essv6991944
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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