A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995600



Internal ID10022654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119582697..119597400hg38UCSC Ensembl
Innerchr1:120125320..120140023hg19UCSC Ensembl
Innerchr1:119926843..119941546hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3814704
hg1914704
hg1814704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763647
Supporting Variants
SamplesSW_1301
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)essv6995600
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