A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018255



Internal ID10026270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130059766..130400286hg38UCSC Ensembl
Innerchr2:130817339..131157859hg19UCSC Ensembl
Innerchr2:130533809..130874329hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38340521
hg19340521
hg18340521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763387
Supporting Variants
SamplesSW_1468
Known GenesCCDC115, CCDC74B, 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)essv7018255
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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