A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764133



Internal ID10378169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:77150336..77175939hg38UCSC Ensembl
Innerchr9:79765252..79790855hg19UCSC Ensembl
Innerchr9:78955072..78980675hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3825604
hg1925604
hg1825604
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994313, essv6994297, essv6994304, essv6994302, essv6994296, essv6994286, essv6994303, essv6994288, essv6994294, essv6994292, essv6994314, essv6994293, essv6994310, essv6994311, essv6994309, essv6994287, essv6994307, essv6994308, essv6994291, essv6994290, essv6994306, essv6994295, essv6994305, essv6994298, essv6994299
SamplesSW_0286, SW_0164, SW_0639, SW_0202, SW_1348, SW_0604, SW_0141, SW_1167, SW_1288, SW_1189, SW_1358, SW_1543, SW_0641, SW_0861, SW_0176, SW_1182, SW_1060, SW_1249, SW_1083, SW_1313, SW_1416, SW_0198, SW_0049, SW_0170, SW_1175
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)esv2764133
Frequency
Sample Size1109
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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