A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2236589



Internal ID2624207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:39380345..39380409hg19UCSC Ensembl
Outerchr7:39380155..39380595hg19UCSC Ensembl
Innerchr7:39346870..39346934hg18UCSC Ensembl
Outerchr7:39346680..39347120hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4619529
SamplesNA18507
Known GenesPOU6F2
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2236589
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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