A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760506



Internal ID10027869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:15666091..15726410hg38UCSC Ensembl
Innerchr19:15776901..15837220hg19UCSC Ensembl
Innerchr19:15637901..15698220hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3860320
hg1960320
hg1860320
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025355, essv7025321, essv7025347, essv7025332, essv7025349, essv7025326, essv7025348, essv7025329, essv7025331, essv7025305, essv7025343, essv7025319, essv7025302, essv7025354, essv7025320, essv7025333, essv7025358, essv7025325, essv7025360, essv7025351, essv7025318, essv7025342, essv7025313, essv7025353, essv7025330, essv7025308, essv7025316, essv7025299, essv7025344, essv7025328, essv7025362, essv7025341, essv7025297, essv7025298, essv7025340, essv7025310, essv7025314, essv7025317, essv7025346, essv7025311, essv7025324, essv7025336, essv7025315, essv7025335, essv7025327, essv7025307, essv7025322, essv7025303, essv7025359, essv7025352, essv7025306, essv7025339, essv7025304, essv7025338, essv7025357, essv7025337, essv7025309, essv7025361, essv7025350
SamplesRW_0123, RW_0585, RW_0071, RW_0583, RW_0636, RW_0148, RW_0196, RW_0314, RW_0555, RW_0022, RW_0012, RW_0011, RW_0511, RW_0617, RW_0549, RW_0137, RW_0216, RW_0502, RW_0536, RW_0570, RW_0631, RW_0519, RW_0540, RW_0539, RW_0224, RW_0324, RW_0600, RW_0171, RW_0253, RW_0279, RW_0596, RW_0176, RW_0611, RW_0155, RW_0530, RW_0029, RW_0587, RW_0140, RW_0288, RW_0664, RW_0222, RW_0281, RW_0252, RW_0260, RW_0328, RW_0249, RW_0231, RW_0145, RW_0622, RW_0331, RW_0543, RW_0117, RW_0306, RW_0665, RW_0028, RW_0223, RW_0184, RW_0573, RW_0084
Known GenesCYP4F12
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)esv2760506
Frequency
Sample Size1109
Observed Gain58
Observed Loss1
Observed Complex0
Frequencyn/a


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