A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005989



Internal ID10010020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241896967..241905742hg38UCSC Ensembl
Innerchr1:242060269..242069044hg19UCSC Ensembl
Innerchr1:240126892..240135667hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg388776
hg198776
hg188776
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762521
Supporting Variants
SamplesSW_0569
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)essv7005989
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