A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6800989



Internal ID10203799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50533923..50534294hg38UCSC Ensembl
Outerchr17:48611284..48611655hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716034
Supporting Variants
SamplesSSM072
Known GenesEPN3
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)essv6800989
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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