A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014016



Internal ID10347380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:92470710..92504647hg38UCSC Ensembl
Innerchr6:93180428..93214365hg19UCSC Ensembl
Innerchr6:93237149..93271086hg18UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg3833938
hg1933938
hg1833938
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762607
Supporting Variants
SamplesRW_0562
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)essv7014016
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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