A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762954



Internal ID10377665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53420679..53514004hg38UCSC Ensembl
Innerchr19:53923932..54017258hg19UCSC Ensembl
Innerchr19:58615744..58709070hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3893326
hg1993327
hg1893327
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7003685, essv7003681, essv7003687, essv7003683, essv7003686, essv7003684, essv7003688, essv7003680, essv7003679, essv7003682
SamplesSW_1064, SW_1111, SW_0874, SW_0605, SW_1172, SW_0258, SW_1301, SW_0170, SW_0242, SW_1003
Known GenesTPM3P9, ZNF761, ZNF813
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)esv2762954
Frequency
Sample Size1109
Observed Gain7
Observed Loss3
Observed Complex0
Frequencyn/a


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