A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6996338



Internal ID10014145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:133122457..133138552hg38UCSC Ensembl
Innerchr11:132992352..133008447hg19UCSC Ensembl
Innerchr11:132497562..132513657hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3816096
hg1916096
hg1816096
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760510
Supporting Variants
SamplesSW_0847
Known GenesOPCML
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)essv6996338
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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