A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003681



Internal ID10369332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53425511..53511924hg38UCSC Ensembl
Innerchr19:53928764..54015178hg19UCSC Ensembl
Innerchr19:58620576..58706990hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3886414
hg1986415
hg1886415
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762954
Supporting Variants
SamplesSW_1301
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)essv7003681
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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