A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018193



Internal ID10002455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:15628970..15632417hg38UCSC Ensembl
Innerchr10:15670969..15674416hg19UCSC Ensembl
Innerchr10:15710975..15714422hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg383448
hg193448
hg183448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760135
Supporting Variants
SamplesRW_0607
Known GenesITGA8
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)essv7018193
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer