A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994436



Internal ID10012301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:13014550..13022407hg38UCSC Ensembl
Innerchr10:13056550..13064407hg19UCSC Ensembl
Innerchr10:13096556..13104413hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg387858
hg197858
hg187858
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764257
Supporting Variants
SamplesSW_0702
Known GenesCCDC3
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)essv6994436
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