A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7015441



Internal ID10348008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144199159..144309608hg38UCSC Ensembl
Innerchr7:143896252..144006701hg19UCSC Ensembl
Innerchr7:143527185..143637634hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38110450
hg19110450
hg18110450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761101
Supporting Variants
SamplesRW_0581
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)essv7015441
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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