A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764025



Internal ID10031375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:134799276..134975815hg38UCSC Ensembl
Innerchr7:134484027..134660566hg19UCSC Ensembl
Innerchr7:134134567..134311106hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38176540
hg19176540
hg18176540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6991366, essv6991368
SamplesSW_0176, SW_1480
Known GenesCALD1
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)esv2764025
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer