A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2080091



Internal ID2582898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:151434981..151435329hg19UCSC Ensembl
Outerchr7:151434853..151435434hg19UCSC Ensembl
Innerchr7:151065914..151066262hg18UCSC Ensembl
Outerchr7:151065786..151066367hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4956833
SamplesNA18507
Known GenesPRKAG2
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2080091
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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