A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2354690



Internal ID2729599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12026363..12027157hg19UCSC Ensembl
Outerchr12:12026255..12027279hg19UCSC Ensembl
Innerchr12:11917630..11918424hg18UCSC Ensembl
Outerchr12:11917522..11918546hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4778575
SamplesNA18507
Known GenesETV6
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2354690
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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