A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014943



Internal ID10346703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:111399660..111529171hg38UCSC Ensembl
Innerchr7:111039716..111169227hg19UCSC Ensembl
Innerchr7:110826952..110956463hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38129512
hg19129512
hg18129512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761111
Supporting Variants
SamplesRW_0543
Known GenesIMMP2L
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)essv7014943
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