A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995175



Internal ID10366286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:89178916..89190337hg38UCSC Ensembl
Innerchr10:90938673..90950094hg19UCSC Ensembl
Innerchr10:90928653..90940074hg18UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg3811422
hg1911422
hg1811422
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764035
Supporting Variants
SamplesSW_1174
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)essv6995175
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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