A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6674195



Internal ID10089385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:815490..815568hg38UCSC Ensembl
Outerchr17:718730..718808hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715366, esv2715367
Supporting Variants
SamplesSSM031
Known GenesNXN
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6674195
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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