A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716036



Internal ID10299672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50533952..50534363hg38UCSC Ensembl
Outerchr17:48611313..48611724hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6688852, essv6828394, essv6725196, essv6839336, essv6674295, essv6728997, essv6776368, essv6936945
SamplesSSM083, SSM045, SSM046, SSM021, SSM035, SSM031, SSM066, SSM080
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)esv2716036
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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