A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760438



Internal ID10376746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:19929941..19960003hg38UCSC Ensembl
Innerchr16:19941263..19971325hg19UCSC Ensembl
Innerchr16:19848764..19878826hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3830063
hg1930063
hg1830063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv47e203
Supporting Variantsessv7023638, essv7023683, essv7023659, essv7023663, essv7023656, essv7023679, essv7023690, essv7023676, essv7023645, essv7023642, essv7023647, essv7023648, essv7023653, essv7023686, essv7023641, essv7023643, essv7023667, essv7023672, essv7023687, essv7023682, essv7023636, essv7023674, essv7023640, essv7023681, essv7023685, essv7023678, essv7023649, essv7023646, essv7023654, essv7023662, essv7023650, essv7023670, essv7023680, essv7023689, essv7023661, essv7023658, essv7023652, essv7023673, essv7023671, essv7023668, essv7023669, essv7023639, essv7023660, essv7023684, essv7023675, essv7023657, essv7023665, essv7023634, essv7023651, essv7023664, essv7023637, essv7023635
SamplesRW_0169, RW_0239, RW_0196, RW_0010, RW_0268, RW_0152, RW_0178, RW_0104, RW_0141, RW_0006, RW_0134, RW_0629, RW_0022, RW_0098, RW_0255, RW_0617, RW_0503, RW_0082, RW_0113, RW_0246, RW_0304, RW_0112, RW_0506, RW_0577, RW_0541, RW_0575, RW_0643, RW_0608, RW_0618, RW_0601, RW_0593, RW_0296, RW_0597, RW_0534, RW_0260, RW_0056, RW_0106, RW_0609, RW_0120, RW_0564, RW_0622, RW_0080, RW_0235, RW_0663, RW_0117, RW_0164, RW_0154, RW_0627, RW_0050, RW_0263, RW_0590, RW_0034
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)esv2760438
Frequency
Sample Size1109
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer