A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992724



Internal ID6728685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77267924..77281537hg38UCSC Ensembl
Outerchr17:75264006..75277619hg19UCSC Ensembl
Outerchr17:72775601..72789214hg18UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg3813614
hg1913614
hg1813614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563686
SamplesHuRef
Known GenesSEPT9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992724
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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