A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2343384



Internal ID2749846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:73216162..73216308hg19UCSC Ensembl
Outerchr10:73215959..73216486hg19UCSC Ensembl
Innerchr10:72886168..72886314hg18UCSC Ensembl
Outerchr10:72885965..72886492hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4713900
SamplesNA18507
Known GenesCDH23
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2343384
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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