A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995255



Internal ID10013496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:132048518..132365985hg38UCSC Ensembl
Innerchr10:133862022..134179489hg19UCSC Ensembl
Innerchr10:133712012..134029479hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38317468
hg19317468
hg18317468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761642
Supporting Variants
SamplesSW_0819
Known GenesDPYSL4, JAKMIP3, LRRC27, STK32C
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)essv6995255
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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