A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1978352



Internal ID2485721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:13219107..13219120hg19UCSC Ensembl
Outerchr6:13218900..13219338hg19UCSC Ensembl
Innerchr6:13327086..13327099hg18UCSC Ensembl
Outerchr6:13326879..13327317hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4939701
SamplesNA18507
Known GenesPHACTR1
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv1978352
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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