A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2109102



Internal ID2521578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22016214..22016258hg19UCSC Ensembl
Outerchr12:22016029..22016449hg19UCSC Ensembl
Innerchr12:21907481..21907525hg18UCSC Ensembl
Outerchr12:21907296..21907716hg18UCSC 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 Variantsessv4748024
SamplesNA18507
Known GenesABCC9
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2109102
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