A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994652



Internal ID10365647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:42705585..42751360hg38UCSC Ensembl
Innerchr10:43201033..43246808hg19UCSC Ensembl
Innerchr10:42521039..42566814hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3845776
hg1945776
hg1845776
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764213
Supporting Variants
SamplesSW_1147
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)essv6994652
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