A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7031526



Internal ID10020178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149279585..149305841hg38UCSC Ensembl
Innerchr5:148659148..148685404hg19UCSC Ensembl
Innerchr5:148639341..148665597hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3826257
hg1926257
hg1826257
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763508
Supporting Variants
SamplesSW_1198
Known GenesAFAP1L1
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)essv7031526
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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