A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2142868



Internal ID2506451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22047475..22047579hg19UCSC Ensembl
Outerchr12:22047285..22047739hg19UCSC Ensembl
Innerchr12:21938742..21938846hg18UCSC Ensembl
Outerchr12:21938552..21939006hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4815257
SamplesNA18507
Known GenesABCC9
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2142868
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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