A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008953



Internal ID10000020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:36387373..36411747hg38UCSC Ensembl
Innerchr3:36428865..36453239hg19UCSC Ensembl
Innerchr3:36403869..36428243hg18UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg3824375
hg1924375
hg1824375
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760763
Supporting Variants
SamplesRW_0543
Known GenesSTAC
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)essv7008953
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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