A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7031461



Internal ID10369153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:129125020..129402592hg38UCSC Ensembl
Innerchr5:128460713..128738285hg19UCSC Ensembl
Innerchr5:128488612..128766184hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38277573
hg19277573
hg18277573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763870
Supporting Variants
SamplesSW_1292
Known GenesMIR4460
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)essv7031461
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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