A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760888



Internal ID10028250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31080036..31264457hg38UCSC Ensembl
Innerchr12:31232970..31417391hg19UCSC Ensembl
Innerchr12:31124237..31308658hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38184422
hg19184422
hg18184422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv26e203
Supporting Variantsessv6997196, essv6997220, essv6997214, essv6997202, essv6997217, essv6997213, essv6997221, essv6997227, essv6997195, essv6997216, essv6997225, essv6997210, essv6997224, essv6997207, essv6997208, essv6997212, essv6997229, essv6997215, essv6997232, essv6997231, essv6997201, essv6997198, essv6997209, essv6997204, essv6997226, essv6997223, essv6997219, essv6997230, essv6997218, essv6997228, essv6997197, essv6997206, essv6997199, essv6997205, essv6997203
SamplesSW_1125, SW_0831, SW_0636, SW_0201, SW_0889, SW_1343, SW_1324, SW_1314, SW_1325, SW_0086, SW_0875, SW_1020, SW_0311, SW_0047, SW_1309, SW_0214, SW_1333, SW_1043, SW_1131, SW_1270, SW_1465, SW_1356, SW_1012, SW_1415, SW_1089, SW_1345, SW_0678, SW_1429, SW_1463, SW_0155, SW_0144, SW_1209, SW_0690, SW_1430, SW_1203
Known GenesDDX11
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)esv2760888
Frequency
Sample Size1109
Observed Gain35
Observed Loss0
Observed Complex0
Frequencyn/a


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