A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7015137



Internal ID9993657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140509998..140534771hg38UCSC Ensembl
Innerchr7:140209798..140234571hg19UCSC Ensembl
Innerchr7:139856267..139881040hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3824774
hg1924774
hg1824774
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761112
Supporting Variants
SamplesRW_0218
Known GenesDENND2A
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)essv7015137
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