A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763387



Internal ID10030737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130026123..130400286hg38UCSC Ensembl
Innerchr2:130783696..131157859hg19UCSC Ensembl
Innerchr2:130500166..130874329hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38374164
hg19374164
hg18374164
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018255, essv7018200, essv7018189, essv7018222, essv7018233, essv7018211, essv7018244
SamplesSW_1086, SW_1132, SW_1223, SW_0660, SW_0311, SW_1282, SW_1468
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)esv2763387
Frequency
Sample Size1109
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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