A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6828394



Internal ID10229037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50533954..50534297hg38UCSC Ensembl
Outerchr17:48611315..48611658hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716034, esv2716036
Supporting Variants
SamplesSSM080
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)essv6828394
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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