A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760512



Internal ID10376820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41470755..41517228hg38UCSC Ensembl
Innerchr19:41976660..42023600hg19UCSC Ensembl
Innerchr19:46668500..46715440hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3846474
hg1946941
hg1846941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025661, essv7025665, essv7025662, essv7025671, essv7025668, essv7025669, essv7025663, essv7025664, essv7025660, essv7025666, essv7025670
SamplesRW_0105, RW_0254, RW_0358, RW_0267, RW_0024, RW_0546, RW_0608, RW_0530, RW_0289, RW_0266, RW_0047
Known GenesLOC100505495
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)esv2760512
Frequency
Sample Size1109
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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