A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2062576



Internal ID2602824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:139427509..139427797hg19UCSC Ensembl
Outerchr9:139427359..139427956hg19UCSC Ensembl
Innerchr9:138547330..138547618hg18UCSC Ensembl
Outerchr9:138547180..138547777hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4713610
SamplesNA18507
Known GenesNOTCH1
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2062576
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer