A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761010



Internal ID10377317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63437305..63751525hg38UCSC Ensembl
Innerchr12:63831085..64145305hg19UCSC Ensembl
Innerchr12:62117352..62431572hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38314221
hg19314221
hg18314221
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997417, essv6997421, essv6997425, essv6997424, essv6997426, essv6997420, essv6997409, essv6997413, essv6997416, essv6997414, essv6997428, essv6997419, essv6997430, essv6997415, essv6997422, essv6997427, essv6997429, essv6997408, essv6997407, essv6997418
SamplesSW_1192, SW_1412, SW_1070, SW_0575, SW_1436, SW_1259, SW_1244, SW_1457, SW_0341, SW_1195, SW_1448, SW_0648, SW_1472, SW_0659, SW_0339, SW_1475, SW_1240, SW_1463, SW_0049, SW_0675
Known GenesDPY19L2
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)esv2761010
Frequency
Sample Size1109
Observed Gain16
Observed Loss4
Observed Complex0
Frequencyn/a


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