A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7031315



Internal ID10005541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100547648..100571960hg38UCSC Ensembl
Innerchr5:99883352..99907664hg19UCSC Ensembl
Innerchr5:99911251..99935563hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3824313
hg1924313
hg1824313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763473
Supporting Variants
SamplesSW_0033
Known GenesFAM174A
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)essv7031315
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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