A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760631



Internal ID10027993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130005319..130400286hg38UCSC Ensembl
Innerchr2:130762892..131157859hg19UCSC Ensembl
Innerchr2:130479362..130874329hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38394968
hg19394968
hg18394968
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008070, essv7008067, essv7008064, essv7008068, essv7008069, essv7008062, essv7008065, essv7008071, essv7008063
SamplesRW_0323, RW_0168, RW_0136, RW_0024, RW_0224, RW_0619, RW_0666, RW_0235, RW_0284
Known GenesCCDC115, CCDC74B, FAR2P1, IMP4, MED15P9, MZT2B, POTEF, PTPN18, SMPD4, TUBA3E
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)esv2760631
Frequency
Sample Size1109
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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