A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763718



Internal ID10031068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197746211..198169247hg38UCSC Ensembl
Innerchr3:197473082..197896118hg19UCSC Ensembl
Innerchr3:198957479..199380515hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38423037
hg19423037
hg18423037
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7028533, essv7028526, essv7028529, essv7028525, essv7028527, essv7028522, essv7028532, essv7028517, essv7028521, essv7028518, essv7028519, essv7028531, essv7028515, essv7028520, essv7028516, essv7028514, essv7028528, essv7028530
SamplesSW_1334, SW_0239, SW_1416, SW_0800, SW_0815, SW_0581, SW_1129, SW_1026, SW_1068, SW_0828, SW_0818, SW_1249, SW_0008, SW_0604, SW_0170, SW_1273, SW_0582, SW_1132
Known GenesANKRD18DP, FAM157A, FYTTD1, IQCG, KIAA0226, LMLN, LRCH3, RPL35A
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)esv2763718
Frequency
Sample Size1109
Observed Gain2
Observed Loss16
Observed Complex0
Frequencyn/a


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