A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7030930



Internal ID10362421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17601444..17701447hg38UCSC Ensembl
Innerchr5:17601553..17701556hg19UCSC Ensembl
Innerchr5:17644656..17734268hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38100004
hg19100004
hg1889613
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763885
Supporting Variants
SamplesSW_1038
Known Genes
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)essv7030930
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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