A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2346022



Internal ID2742951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4848784..4848865hg19UCSC Ensembl
Outerchr3:4848614..4849026hg19UCSC Ensembl
Innerchr3:4823784..4823865hg18UCSC Ensembl
Outerchr3:4823614..4824026hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4697998
SamplesNA18507
Known GenesITPR1
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2346022
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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