A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6996092



Internal ID10024466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:65576857..65623846hg38UCSC Ensembl
Innerchr11:65344328..65391317hg19UCSC Ensembl
Innerchr11:65100904..65147893hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3846990
hg1946990
hg1846990
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761680
Supporting Variants
SamplesSW_1392
Known GenesEHBP1L1, KCNK7, MAP3K11, PCNXL3
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)essv6996092
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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