A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760671



Internal ID10028033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031269..54049104hg38UCSC Ensembl
Innerchr20:52647808..52665643hg19UCSC Ensembl
Innerchr20:52081215..52099050hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3817836
hg1917836
hg1817836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026348, essv7026357, essv7026344, essv7026347, essv7026346, essv7026350, essv7026352, essv7026359, essv7026353, essv7026340, essv7026355, essv7026360, essv7026343, essv7026349, essv7026351, essv7026358, essv7026354, essv7026342, essv7026341
SamplesRW_0278, RW_0329, RW_0504, RW_0221, RW_0104, RW_0152, RW_0180, RW_0508, RW_0224, RW_0143, RW_0249, RW_0063, RW_0256, RW_0552, RW_0039, RW_0636, RW_0053, RW_0056, RW_0190
Known GenesBCAS1
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)esv2760671
Frequency
Sample Size1109
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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