A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6996090



Internal ID10017500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:61070090..61081485hg38UCSC Ensembl
Innerchr11:60837562..60848957hg19UCSC Ensembl
Innerchr11:60594138..60605533hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3811396
hg1911396
hg1811396
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760588
Supporting Variants
SamplesSW_1097
Known Genes
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)essv6996090
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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