A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993644



Internal ID10356495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:14960219..15049345hg38UCSC Ensembl
Innerchr9:14960217..15049343hg19UCSC Ensembl
Innerchr9:14950217..15039343hg18UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg3889127
hg1989127
hg1889127
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761503
Supporting Variants
SamplesSW_0509
Known GenesLOC389705
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)essv6993644
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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