A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762200



Internal ID10029550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180331801..180524705hg38UCSC Ensembl
Innerchr1:180300936..180493841hg19UCSC Ensembl
Innerchr1:178567559..178760464hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38192905
hg19192906
hg18192906
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7006725
SamplesRW_0094
Known GenesACBD6, MIR3121
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)esv2762200
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