A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2323749



Internal ID2847913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103414742..103415066hg19UCSC Ensembl
Outerchr1:103414545..103415250hg19UCSC Ensembl
Innerchr1:103187330..103187654hg18UCSC Ensembl
Outerchr1:103187133..103187838hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4809519
SamplesNA18507
Known GenesCOL11A1
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2323749
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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