A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761463



Internal ID10374261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:115981440..116000835hg38UCSC Ensembl
Innerchr8:116993665..117013060hg19UCSC Ensembl
Innerchr8:117062843..117082238hg18UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3819396
hg1919396
hg1819396
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993398
SamplesSW_0021
Known GenesLINC00536, MIR6507
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)esv2761463
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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