A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2248874



Internal ID2621414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:230746..230798hg19UCSC Ensembl
Outerchr7:230556..230994hg19UCSC Ensembl
Innerchr7:325829..325881hg18UCSC Ensembl
Outerchr7:325639..326077hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4914489
SamplesNA18507
Known GenesFAM20C
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2248874
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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