A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760509



Internal ID10027872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40819099..40888431hg38UCSC Ensembl
Innerchr19:41325004..41394336hg19UCSC Ensembl
Innerchr19:46016844..46086176hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3869333
hg1969333
hg1869333
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025612, essv7025654, essv7025642, essv7025648, essv7025608, essv7025651, essv7025644, essv7025625, essv7025628, essv7025609, essv7025621, essv7025638, essv7025641, essv7025627, essv7025610, essv7025618, essv7025617, essv7025649, essv7025650, essv7025647, essv7025640, essv7025636, essv7025635, essv7025620, essv7025616, essv7025619, essv7025629, essv7025614, essv7025643, essv7025624, essv7025637, essv7025653, essv7025646, essv7025632, essv7025615, essv7025613, essv7025652, essv7025631, essv7025630, essv7025623, essv7025607, essv7025626, essv7025639
SamplesRW_0123, RW_0203, RW_0093, RW_0268, RW_0188, RW_0025, RW_0319, RW_0283, RW_0309, RW_0062, RW_0113, RW_0241, RW_0246, RW_0017, RW_0230, RW_0004, RW_0005, RW_0065, RW_0311, RW_0279, RW_0176, RW_0346, RW_0655, RW_0077, RW_0666, RW_0587, RW_0571, RW_0036, RW_0249, RW_0120, RW_0341, RW_0622, RW_0200, RW_0275, RW_0662, RW_0119, RW_0215, RW_0646, RW_0191, RW_0184, RW_0508, RW_0139, RW_0213
Known GenesCYP2A6, CYP2A7
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)esv2760509
Frequency
Sample Size1109
Observed Gain12
Observed Loss31
Observed Complex0
Frequencyn/a


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